Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CFAP47_chrX_35914734_36390317	36138438	G G	GA GA	frameshift_variant frameshift_variant	HIGH	HG04115.hp1 HG04115.hp1	a0044 a0044	a0044c0041 a0044c0041	a0044c0041t0001 a0044c0041t0001	a0044c0041t0001g0096 a0044c0041t0001g0096	1	216	0.0046	1	c.551 others(5): Show c.5512dupA	p.Ile others(6): Show p.Ile1838fs	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	35/64	5579/9941	5513/9564	1838/3187	INFO_REALIGN_3_PRIME	chrX	TogoVar
CHIT1_chr1_203211079_203234673	203217822	C C	CAGACCAT others(17): Show CAGACCATGGCCCCGCCCAGTCCCT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0001 a0009 a0013 others(5): Show a0001 a0009 a0013 a0016 a0017 a0018 a0020 a0023	a0001c0001 a0001c0022 a0001c0025 others(8): Show a0001c0001 a0001c0022 a0001c0025 a0001c0029 a0009c0009 a0013c0015 a0016c0017 a0017c0028 a0018c0027 a0020c0024 a0023c0018	a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 a0001c0025t0001 a0001c0029t0001 a0009c0009t0001 a0013c0015t0001 a0016c0017t0001 a0017c0028t0001 a0018c0027t0001 a0020c0024t0001 a0023c0018t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0004g0048 a0001c0022t0001g0100 a0001c0025t0001g0101 a0001c0029t0001g0116 a0009c0009t0001g0027 a0009c0009t0001g0047 a0009c0009t0001g0125 a0013c0015t0001g0046 a0016c0017t0001g0136 a0017c0028t0001g0102 a0018c0027t0001g0153 a0020c0024t0001g0107 a0023c0018t0001g0096	175	484	0.3616	24	c.104 others(33): Show c.1049_1072dupAGGGACTGGGCGGGGCCATGGTCT	p.Val others(37): Show p.Val357_Trp358insTerGlyLeuGlyGlyAlaMetVal	CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	10/11	1109/2248	1072/1401	358/466		chr1	TogoVar
CHRFAM7A_chr15_30355566_30398540	30373077	TCA TCA	T T	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(50): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02273.hp2 HG02622.hp1 HG02738.hp1 HG03239.hp1 HG03490.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA19009.hp1 NA19009.hp2 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0018 others(2): Show a0001c0001 a0001c0007 a0001c0018 a0001c0023 a0001c0024	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0001c0007t0001 a0001c0018t0001 a0001c0023t0001 a0001c0024t0028	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0048 others(49): Show a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0004g0065 a0001c0001t0004g0070 a0001c0001t0004g0096 a0001c0001t0011g0114 a0001c0001t0011g0115 a0001c0001t0011g0118 a0001c0001t0014g0068 a0001c0001t0014g0090 a0001c0001t0015g0079 a0001c0001t0015g0088 a0001c0001t0025g0084 a0001c0001t0026g0064 a0001c0001t0033g0130 a0001c0007t0001g0080 a0001c0007t0001g0081 a0001c0007t0001g0082 a0001c0007t0001g0098 a0001c0018t0001g0076 a0001c0023t0001g0092 a0001c0024t0028g0103	53	133	0.3985	-2	c.227 others(9): Show c.227_228delTG	p.Leu others(4): Show p.Leu76fs	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding	6/10	673/3411	227/1239	76/412		chr15	TogoVar
CHRNA4_chr20_63338223_63366349	63349743	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG01255.hp2 HG02080.hp2 others(4): Show HG00423.hp1 HG01255.hp2 HG02080.hp2 HG02895.hp1 HG03139.hp1 HG04115.hp2 HG04204.hp2	a0000 a0000	a0000c0006 a0000c0014 a0000c0017 a0000c0006 a0000c0014 a0000c0017	a0000c0006t0003 a0000c0006t0004 a0000c0006t0006 others(4): Show a0000c0006t0003 a0000c0006t0004 a0000c0006t0006 a0000c0006t0015 a0000c0006t0028 a0000c0014t0002 a0000c0017t0007	a0000c0006t0003g0109 a0000c0006t0004g0095 a0000c0006t0006g0093 others(4): Show a0000c0006t0003g0109 a0000c0006t0004g0095 a0000c0006t0006g0093 a0000c0006t0015g0032 a0000c0006t0028g0079 a0000c0014t0002g0023 a0000c0017t0007g0104	7	168	0.0417	1	c.166 others(5): Show c.1667dupC	p.His others(5): Show p.His557fs	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	5/6	1851/5583	1667/1884	556/627		chr20	TogoVar
CLPSL1_chr6_35776019_35793150	35786783	A A	AAACCTTT others(12218): Show AAACCTTTTAAAAACTGTTCAGTCCCCTCCAGGCATCCACCGTCTGCACA GACTTACCCCGGCCCCCACGTAGAGACCACCCTGCCTGGCAGGAGCCAGA GGTGATGGTGGGAGCAGAGTCTGGGGAGGAGCCCCGTAGGGAGAAAGCCC CAGGCGGGGCGGCGAGGGCGGAAGGCGGGCGGTGGAGCCTGGCGGTGCCG TGTCCCTCCCTGCAGGAGCTCAAGGAGTCTTGCATCCGGAACCAGGACTG CGAGACTGGCTGCTGCCAACGTGCTCCAGACAATTGCGAGTCGCACTGCG CGGAGAAGGGGTCCGAGGGCAGTCTGTGTCAAACGCAGGTGGGTATCGCC GCCCGGGGGGAGCCAGAGGGGATCCAGGGGAAGTGGGAGCCAGGGCGGGC CCAGATTCCTGGGGAGGAAAGAAGGGTAGGTGGGCGGAAATGCCCTGGAG CCTGGAATTCCCCCGTGGGACTGCACCTCCAAGCCTTCTGGGGGAGCCTG TGGACGGAACCAATATGGTAGCCCACCCTAGGGTTTTGGAATCCTGGATT GGGGCGGGAAGGCGATGTTTCACTTTCTAATGTGGGTTCACATTCTCCAG GAGTCTTCTCAGCAAATTCCGAAAGTAGTACAGTAAATGGGCACAGCTAG GTCCAGCCTCTGCCCCAGAGCCCCGTCTTCATCCAGCTCAGGAGTTCTGC TGTGGCCCCGGGTGTTCCTGGTGGAGGATGGGCAGAGGCAGCCTCTGAGC TGGGTGTGTAGGGGAGGGAGTTGATTTGCCCATGGAAGGATTTAAAGACA AGACATAGAGGTCCTGCGATGGTGTGTCCATGGACTTAGGACAGGCAGAT GGGTCAGTGACAGGCAGGGTTACAAGGTCTGGAGCTGGGAGGACACTGAA CAATCCAGGAGCCAGCCTGGAGAAGGCAGCCAGAGGTGCCACTCTGAGCA GCTGGCAAGCTATCATTTATCCCTGGATCCTGGCTGTGGGCAAGCACATG GGCCCTGGAGCTGGGCTGGGCTGGGCTTAGGGGCTCAGGGAAGAGCTGCC GCCAAGGTCGAGGTCAAAGTCCTGTCTTTCCCAGGTGTTCTTTGGCCAGT ATAGAGCGTGTCCCTGCCTGCGGAACCTGACTTGTATATATTCAAAGAAT GAGAAATGGCTTAGCATCGCCTATGGCCGTTGTCAGAAAATTGGAAGGCA GAAGTTGGCTAAGAAAATGTTCTTCTAGTGCTCCCTCCTTCTTGCTGCCT CCTCCTCCTCCACCTGCTCTCCTCCCTACCCAGAGCTCTGTGTTCACCCT GTTCCCCAGAGCCTCCACCATGAGTGGAGGGAAGTGGGGAGTGATTGAAA TAAAGAGCTTTTTCAATGTTTGCTGCCCACAGAGTTGGGGCCTGGGTGGG CTGGGCTGGGGTGGGCATGGTACAGGTTTCTGGGGGGTGGGGAGGTGATA TGAGGGAGGAAGCAGGAAGGGACACTGTTGGACTTGGGGTCTTTCCCCAG TTGGGGCATGAATGAAAGTCCCCCAGAAGAGACCAAAGCTCCCTTCCCAC CCCAACCCCTTTCTGCCTTCAGCCCACTCTGTAATCTACCCCCCGGAAGC CCAGTTTACACCTGATATTCCAGTTCCACGACCTTAAATTTCAGAAATGT GAAAGAAGGTACACAAAATATCCATGTGTATAAAGAATTGAGGATGTTTA TTGAGCACTTACTAGATGTTAGGGGCAGCTCTAGCTGCCTTATGCACATG ATCTCATTTAATCCTGCAACAAACCTGTGGGGTCTCTCCTGTTATCACCT CTGTTTTACAGGTAGGGAAACGGGTTGAGCAACTTGTTCAAGGTCACACA GTTGGAAAGTGCTGAATCTGAATCTTCTGGGAGGCAAGAGAAAAGAGGGA CAAGAAAAGAAGAAAGGAAGGAAGGAAGGAGAGCCTAGGAAAGAGTGAGA AAGAAAGACTGGAGCAGCGACTGTGGTGTGGGGTTGGAGAGAGAATGAGT CAAGTGGAGTTTTAGGAAGTCTCAGTGTGTGATGAGGCTTTTGGAGTTAG ATGCTAGCTCGCTTGTCTGTGAGTAGTGCCTGTTATATTCAGGTTACATT TTGGAGTTAATTATTTCAGATTTTGGACCTAAATTTCCACATTCAGCCAC CAGAACTGAGCCAAACATGCCCTCCAGGATGTTGGGCTTAGGATGCAAGG GCTGGGGAGTTTGGAGGTAAACTATGGTTGTACTTAGAACGCCCCCTTGT AAGTCATAGCAAAACGATGTGAACCATACCTTGGTAGAATATGCTGTCCT GTACTAAATGTATCAGACAGATAACCAGACTTCCATTGTGTTATGTGAGC TCTCCCCATTCAGAGAAAACCTATGAAATGACCGTGGAAGGAGAGGTGGC AGGCTGGAAACCCAATGATACCCAATGTCTAAGAAGTTCCCAAGGATACC CAATGTCAAGAAGTTAGAAGGGGAAGGGGAGAATACAGAGCCCAGAAATA AATCCAAGCCTGTACAGCCAATTAAGTTTCAACAAGGGCACCAAGAAGAC ACCTTGGGGAAAGGATAGTCTTTTCAATAAATGGTGTTGGGAAAACTGAA TATTCACATGCCAAAGAATGGAATTGGACCCTTATAGCACACACAAAAAT AAACTCAAAATGGATTAAAGACCTAAATATAAGACCCAAAACTGTAAAAC TCCTAGAAGAAAATATAGGGGAACTATTACACGACATTGGTCTTGACAAT GATTTTTTGGATAAGACACCAACAGCACAGGCAACAATAGCAAAAATAAA CAAATGGGACTACATGCTGAAAAGCTCTGGACCGAGCACGGTGGCTCATG CCTGTAATCCCAGCACTGTGGGAGGCCGAGTTGGGTGGATCATCTGAGGT CAGGAGTTCGAGACCAGCCTGGCCATCATGGTGAAACCCCATCTGTACTA AAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGCAGTCCCAGCT ACTCAGGGGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGGTT GCAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCAACAGAGCAA GACCCTGTCTCAAAAAAAAAATTAATTTGAGGAAATTTTATGGTTTGGTT TTGTTTTGTTGGAGACAGGGTCTCACTCTGTCACCCAGGCTAGAGTGCAG TGGCTCCATCTCAGCTCACTGCAGCCTCATCCTTCTGGGCTCAAGTGATT TTCCCATCTCAGCCTCCTGAGTAACTGGGACCACAGGTGTGCGCTACCAC ACCTAACTAATTTTTAAGATTTTTGTAGAGATGGGGAGGGGGAGATCTCA CCATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCTGCCT CAGCCTCTCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCTG AAATTTCACTTTTTTCCAATATTGGATATTTTCATCCAGGAATATAAAAT GCTTTAAAACAAAGTTGTTAATTTTTTTAATAAACGTTTTTAGCCTAATA AGGAAAAAAAAGAAACAAAAAAGAAAGGGAGTTGGGGAAGATACGTTGCT GACATGACTAAACTGGTTCCAAGTGTTGGGGGAGGAAAACTTTTCCTCTA TCCTCTTAGGTTCAGTACTTGAAGGCCTGAGAATTAAACCGATAAAAGAG AAATGACCGATTTTTATTCAGAATGTAGGGAAGTTCATGGAAGAGTGTGA CTCTAGAAGGAAGTTAGAATTTGCGGGTTATGTACCATCTCAATAGAAGA AGGGGAGGAGGAGAAAGGACACTTATAGAAAAGTAATTTTTAGGAAAGAT GAATGGGCCCTTAGGAGAAAAGATGGGAGCTATTATAGTTTCGTGACCTG ACTGTTTAGGTGTGGTGCCAACTATTCTCCCCTCCAGCAATAAGTCAATT TTCCCTGGTTTTGAGAAACTCCTGGGAGGGGGATTTATGACAATGGAGCT CTTTTGCAGGGCTCTGCATTTAGGCAGACAAAGGAGTTCAGAAAAGAGCC TATTCTCATCCAGCCTGGGCAGCATTGCGAAACCCTGTGTCTGAAAACAA ACAACAACAGCAACATAGCCGGTGGTGGCACGCACGTGTAGTCCTAGCTA CTTAGGAGGCTGAGGCAGGAGGATCACTTGAGCACCAGGAGGTTGAGGCT GCAGTGAGCCATGGTCGCACCACTGCATTCCAGCCTGGGTGACAGAGCAA GACTCTGTCTCAAAAAAAAAAAAAAGAAAGAAAGAAAAGAAAAAGGCCCA TTTTCAAATGCCTTCTGCTCAGAATAATTTTTATGCTTCAGTGGCATTCT CTAGACCCCTTCACAAGCCATGGGGATTCCGCTGCCCTATGGGAAAAGTG GTCATTGGTAGAGGCTGCCGTTGTCAGAATCCAGAGAGATTTGTAGGGAA TAAAGTACAGATGCTCCTTGACTTACGATGGGGCTACATCCTGATAAACA CATTGTTTAAGTTGAAAATATCGTAAGTTGAAAATACGTTTAATAGGCCG GGCACGGGGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAG GCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAA CCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGAGGGCACGCC TGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCG GGAGGCGGAGGTTGCAGCGAGCCGAGATCGTGCCATTGCATTCCGGCCTG GGTGACAGAGTTAGACTCTGTCTCCAAAAAAAAAAAAGAAAAAGAAAAAG AAAATACATTTAATGGGCAGGTGTGGTGGCTTGTGCCTGTAATCCCAGCA CTTTAGGAGGTTGAGGTGGGCGGATTGCTTGAGCCTAGGAGTTTAAGACC AGTGTGGGCATCATGGTGAAACCCCATCTCCACTAAAAATATAAAAATTA ACTCCGGGCATGGAGGCTCACACCTATAATCCTAGCACTTTCGGAGGCCT AGGTGGGCAGATTGCCTGAGCTCAGGAGTTCGCAACCAGCCTGGGCAACA TGGTGAAACCCCATCTCTACTAAAAATACAAATAAATAAATAAATAAATA AATTAGCTGGACGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGG CTGATTCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCC GAGATCGCACTATTGCACTCCACTCTGGGCAACAGAGACAGACTCCATCT TCCCCCCGCCGCAAAAATAAATAAATAAATAAATAAATAAATAAATTAGC CAGGCATGGTGGCACACGCCTATAGTTCTAGCACTTGGGGAACTGAGGTG GGAGGATCACTTGAGCCCAGGATGTCAAGGCTGTAGTGAGCCATGATCAT GCCACTGCATTCCAGCCTGGGTCACAGAGTGAGACCCTGTCTCAAAAAAA AAAAAAAGTATTTAATACACCTAACCTACTGAATATCATAGCTTAGCTTA GCCTACCTTAAATGTGCTCAATCAGAATGCTTACATTAGCTGGGAAAAAT AACACAAAGCCTATTTTAGAATAAAGTGTCGAATATATCTCATGTAATTT ATTGATGTTCTACTGAATGCATATTGCTTTTGCACCATCATAAAGTTGAA AAATTGTCAGTCAAACCATTGTAAGTGGGGACCATCTGGTTCCTTGAGCT GTGGTTAGACTGTGCCTCTGCTGTGTAGGCGTGTGATGCTGAAAAGCAGC AGAAATTGAGAGTCTACAGGAGCACTGGCCGTTGGAAATAAAATGCAAGC TACATAATGGTTGGGGTCTTGGTCACTTGCTTCTGCAGAGCCCAAAGCCC AACTCCCTACTCACTTTTGAAGACCAGGGACATTTTCCTTATGCCCCCCA CAGTCCAAAACACGGTGCCAGGCACACTGTGGTCATTCAGTGAACACATG AAGGGGACATGAATGCAGATCTCCAGGACCGAATGTGGCACCAAGAAGCG TGACTCAGCCCTGCTCAGGGCCTGAGACCCCTCCTGGGTTAAGGTATTGA AAGCTCCTCTTGTTGAGCACATAATTCATATGTGGCAGACACCATTACCT GGTTTCCTAATAGCCATTGTCCCCTTCCCTGCCAACTGAAACCCAATATT GTTTGGGCATCAATGAACCTGGCCCCAGGAGAAGGATCTTATTCCCTTTG CTTTCCCAGCGTCCCTTGCAGCTAGAAGTAGTCAGATAACCTAGTTCTAG CCACTGAGATATGAAGAGAAGTCGGCCTTGAGGATTTGAGGAAAGATAAG AAGAGGGTATGGTCCAGGTGCCATGGTTCATGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCAGGTGGATCACCTGAGGTAAGGAATTCAAGATCAGC CTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAAATCAGC CAGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAAGC AGGAGAATCGCATGAACCCAGGAGGCAGAAGTTGCAGGGAGCCGAGATCG TGCCACTGCACTCTGGCTTGGGCAACAAGAGCAAAACTCTGTCTCAAAAA AAAAAAAAAAAAAAAGGGTATGCAAGAAGAAACTCTCTGCTCCTTCTCCC GCCTTCCCAGCTGCCAGCTACTCCATGCTTCCTGCCTTCGAATACGGTGA GAACGTGAAGTCATGAGCTGCTGCTAAGGCATGTGGCAACCTTGAAGAGA AGGTCAAGAGCTACCAGCCACCAAAAGAATGCCAGCACTTCCTGTGTCTT TGCTTTGGATTCATGAGAAATATACGTTCCTATTTGCTTCAGCCATAATT ACTTGGGTTTTTCTGCTACTCACAGTTGAATGCAATCCTAACTCATAAGC CTGTGGTTACAGGAGGATTCATTGATCACAGAACTGCAAGATCCTGGGGC TGGGACGACATCGAAGTTTCATTCAGTTCACTGTCCCTCACTCTCTGTGG GAATCTCCTCTCTAGCATCTCCACCGAGGGGTCAGTGAGCTTCCACCTGC GTACCTGGATGATGGGCACCTCAGTACTGACTAAGGTAACTCATGTTTGA TGGCTCCAGGGGATATACAATTTTTATATTAAGGCAAAATTAAATTCCTT GCAGTTTCCACCCATTTTTCTTAATGTGAATAATTGGGAAAGAAAAAGGA ATCATAAGGCCGGGCACGGTGGCTCATACCTGTAATCCCAGCACTTTGGG AGGCTGAGGTGGTGGATCACCTGGGGTCAGGAGTTTGAGACCAGCCTGGC CAACACGATGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCG TGGTGGTAGGCGCCTGTAATCCCAGCTACTAGGGGAGGCTGGGGCAGGAG AATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGAGATCACTC CGCTGCACTCCAGTCTGGGCAACAGAGAGAGACTCTGTTTCAAAAAAAAA AAAAAAAAGGAATCATAGAAGCAGGGCAGTGGAGTTAGATGGTAGAGTGC CAACATTTTCTGATTATGTGACATTGGGCAAGCTCCTCTCTGAAACTTGG TCTCTATCTATAAAGTGGAGATGAGAAATTCTCCCTCCTGGGATCCTTGT GAGCATTTGCTGGCAGAGAGTAAGCTCATAGCAATTGAGAGTGGTCTGAC CCCTTAACACATGAGTTGTGTCAGCTAGCTGTGTCATATTTGAGAATTGT GTCCAGAAAAGAGGTGAGAGCCCAGGACTCTGATGCCTCTGATGCAGGGT GACGAACATGGGCCATTAAAACTCCTTACCCACAAGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGCGCGCGCATGCACATGTGCCCGCTTGTCTCTT TGAGAACCGGAGGGACAAGGAGGGCATCCCAGGTAGGTGTGACTTCTCCC CAGAAATGGAGGGTTTCCCAGGCTGGCTGGGCCGCCTTCACAGCTTTGTC TTCAGTCTCCCATCTGTTTGGCCACAACTTCTTCAGCCCCAGACCCATCC CTTGTTCTTCTGACCTGCCTGAAGCCTGCCCTGGTGGACCAAAGGCCTGA TGCAACTTCAGAGAAGATGCTGAGTCAGAAAGAATATGCAGGAGACTGGG AAAGGTTTGCAGGAGGCCTTTAATTGTGAAGAGCGCAATCAGAAAACAGA TATGCTGGTCAAGGAGGTGGCCAGCCCGGGAGATGCGCTGGAGCAGGGGA GAGATGCCCCTGCGCCTAGTGGCCTACAGCATTCTGGGCTAGGTGTGGGA GTGGGTGGGCAGTCTCACTGCTTGGAGCGTCCAGCGTCATGGCAGATGCC AAAGTTGGTGTTGGTGATGGAGCCCACGATGGTCTTGTCTCCCTCACAGG TCAGGCCACGCTCACAGGGACACTTGTAGTAAATCCCATAGAGCGTCTGC AGAGACACAGCCAATGGAGTCAAGGCTATGGGGAGATACTTTGGACATCA CTTGTCCCCTGCCTGACCTAGAGAACCAGTAGGCCAGCCTGTGTTTTCGG GGAGTGCCTCTCCCACCTGCCTCCCCAGGGGTGCCGTGGGCCCTGGAGAC CCCAGCTCTGACCTCTGCTCTGGCTCATTTGCTCTTACTAGCTTGATCTC TCTGGGGAGCCTCTATTTACCCAGCCATGAAATGGGGATAACAAATCCCC ACCCCCACCCATCTCACTGGTCACTCGGGAGGGTCAAGAGAGATGATGGG ATGGGAAAGTGCTTTGACACCTGTCGACCTCCCTCTCGTCTCCTCAACAT TCAGTGTCCAGGCTGACCCCCCTCCCTGATCCCACTCACAAGTGTTCAGG GCCCTACTCCCCATTCTCCCCCACCCACGCCAAGTCCTCAGGCACCCACC TTGACAGAGCACTCGCTGTTCTCGCTGGCCATGGATGTGCAGCGGGCCAG GCCCAGCGCACTTGAATGCTGGCAGCAATTGCTCTTACACTGGGCACTAT TCATGCAGAGCTCACCGTTCTCCTGCCAGGAGCAGCCAGTCAGCCCAGGC CCCACTCCCTCAGGTCCCTTCTCCATTCAGACCTGTACCCACCACACACT ACCACTAACAGTGTCTCCCCTGGTAGGGATGTGTGTGAAGGAGTCCATCC CCTGGGTCTGGTGGCCTCTGTGCCCCCAACCCACGTGAGAAGTGGGCATG CGGTGACAGAGAAGCAGACCTGCACAGAGGGTCAGGACCCCTGGGTTCTA GTACCGGCTGTGCTACCAACCTCCTGTGTGACTCTGGGCAAGTCACTGCC TCCCAAGCCTCAGTGTTCCCATTTGGAATGTGCACACAAGGCCCCTAGAC AAGTTCTCCAAACCACTCTGGGTCCCACACCTCTTTAAGGAGGCGGTGAA GATTGCATCTCCCTGCAAGACTCCTTCCTCCCCCAACAGATCTGATCTAT AATCTCCAAGGGTCCTGGACCTCCAAGTCCAGCCATGGCCCCAAGTTAAG AGAGTTCAGAACCTTTCAACCGCATGGACGTTCTGGAAGGGCTTTCCCAG CCAAGATCCATGGTGGAGAGGTGGTGTGGGGCAGTGGTGGGGCCCCAGCT GAACCACTTTCCAGCTATGTGACCTCAGGCAGGTTGCTCACCCTCTCTCT GTCTGAAGACAGGGCTGACTCTGAAAACACCTCCCTCAGTGGTTATTATG AGAACAGAATGAGTAAACATCTCCGAGGCATCTCCATAAGTCAGAAGCTG GAATGATTGGCGCAAAGCATTTTCTCAGGATGGAAGCCCAGGGCTCTGGA TTTTTACAAAGCTCCCTCGTAGGGCCAGGTGAGGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTT GAGACTAGCCTGGGCAACATGGTGAAACCCTGTTTCTACTAAAAATACAA AAAATAGCTGAGCGTTATGGCAGGCACCTGTAATCCCAGCTTCTTGGGAG GCTGAGGCAGGAGAATCATTTGAACCCGGGAAGCAGAGATTGCAGTGAGC CGAGATTGTGCCACTACACTCCAGCCTGGTGACAGAGCAAGACTCCGTTT CAAAAAGAAAAAAAAGAGAAAAAAAGGTCCCTCATAGCCAGGTTGAGCTG CTGCTCTGAGCATGCTCCAGTTGGAGCTGGAGAGGGGCTGATCAGCCTTT CCTGTGGCCTCTGGGAAGAGGCATAGGACAGGACATGGAAGTAAACAGAG GGATGCAAGATGCCACTCCTCCCAGCCCCTGCCAGTCCAGGTGGAGACAT CAGAGGTCAAGGTCCAAGCTTAGGAAGTCTTCATCCGGGGACTCAGGAGG CGCCTCCCCTGAAGACCCTCTTACCAGGTTGATAATGATCCCCCGGGGGC CAGGAGCTGCATAGGCCACAGAGAGGGCGACAAGCAGGAGGATCAGGATC TTCTCCATGGCGAGTGGGACAGCTGGTGTGGGTGGCGGGAGACAGAGCCA GCTGTGGTGATGGGGCTATAAAAGGGGCCCTGACCTCACGAGACCCACCT GCATCCCACAGGGCTGGCCATGGGCAGAGGCACAGCTGTGGCCAATCTGC TGTGGGGCGGTTCCTGATAAGGAAACTGGGTGAGTACCTGGTGGCCTTTT TCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGGTGATAATTGTG TTGCATCGTGGTTAAGAGTATGGACTGTGTACAAGTTATTAGTGAGGCAA ACTTACTATCTGTTCCAACTATTCTGCCTTTCATCTTATCTGTCAACTAA GGATAATTTAAAGAGTTGTGAGGGTTGAATTAATACACATTTATATGTGT TACATATATATAAACATTATTATATACAATTATAAGAATATATTTATATT GTATATTCCCATATGCCACATAAGCAGTGGGTAAGGGTGGCTGCCCTTGT GTCTTGAGCTCCTGGGCAGTGCCTGGACGAATCCAAGGCAAGAGAGGCAC CTATGGTGTGAGTGCCTGCTTACATTCTGTGTACTTGGGGCCTCTCTGCC TCACTATAGTCAGGCCTTGCCTTTGGCCCACCCAAGCCCAGGTGTCTAGC AGTGTCAGACTCCAGGGACGAGGATCCCAGCCTCCCACCCCTCAACCTTC CTTCAGTCTCCTCGGGGGATTCCAGGCCATGCCCAGATCCCTGGGGCTGA CAGTTCTGCAACCCCCAGCAGGCCAGGGTGTGTGTGCTTTCACTTTGGCA CCCTCCCCCTGCCCTCACACCAGGGGCTGCCTGCAGGCCTGACTCAAGGG CCCTTAGGAGGCCCTTCCTAAATGCCTCTCTCCCCTTTCCTTTCTACCTC ACTTACTATCTGCAATTCCAGCATCAGATACTCACCCCTTTAGTTAAGGT TTCCACTCACGCTGCCCCCTACCCAAGGCCACGTGCGCGCGTGAGCAGTC GCTAGTCCTGGCTGAGAATGAAGAGGTCTCATGAGCCTCAGATGGAGCAG GGGCCTCAGGAAGCTGGGAAGGGCACAGCTGCCTGAGTTTGCTCAGGCAT GGGAACAGAGCAGCTTTTCCTGAAGGACTAGTCATGGCAGCCAGAGGCCC CTGCCCTTCCCCTCTCCATCCCAGGAGGTAGAAGACAGCTCCACTGAGAG GCCCAGGCCTCAAGCACAGCTTTTAATTTAATTTAATTTAATTTTTTGAG ACAAGGTCTCTCACTCTGTCACCTAGGCCGAAGTGCAGTTGTGCCATCTT GGCTCACTGCAGCCTCCACCTCCTGAGATCAAGCAATCTTCCCCCTAAGC CTCCCAGGTCTAAAACTCGTGGGCTCAAGCAATCTTCCCACCTCGGCCTC CTAAAGTGTTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCAAGCAC AGCTTTGATCCAGACCAAGCTGGCTTCAAAATTCAGCATTTACTGGAGCT ACGTGGCCTCAGACACATTATTGAAAGTGAAGCTCCCTGAACCTCACTTT CCTTATTTATCTTAGGGGGATAACGCCTCCTACTTCCTGAGGTCATGATT AAGACAATGCACGTGGAACACCTTCGGAAGTGCCTGGCACATGGTGGGTG CCCAGCCATGTAATATGACCCCCTTCCTCTCACCTTTACATCCCTGGGGT GTGGAATGTAGAGAAATAGCTGGAGG	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	444	0.0023	12225	c.236 others(12232): Show c.236_237insGTATAGAGCGTGTCCCTGCCTGCGGAACCTGACTTGTA TATATTCAAAGAATGAGAAATGGCTTAGCATCGCCTATGGCCGTTGTCAG AAAATTGGAAGGCAGAAGTTGGCTAAGAAAATGTTCTTCTAGTGCTCCCT CCTTCTTGCTGCCTCCTCCTCCTCCACCTGCTCTCCTCCCTACCCAGAGC TCTGTGTTCACCCTGTTCCCCAGAGCCTCCACCATGAGTGGAGGGAAGTG GGGAGTGATTGAAATAAAGAGCTTTTTCAATGTTTGCTGCCCACAGAGTT GGGGCCTGGGTGGGCTGGGCTGGGGTGGGCATGGTACAGGTTTCTGGGGG GTGGGGAGGTGATATGAGGGAGGAAGCAGGAAGGGACACTGTTGGACTTG GGGTCTTTCCCCAGTTGGGGCATGAATGAAAGTCCCCCAGAAGAGACCAA AGCTCCCTTCCCACCCCAACCCCTTTCTGCCTTCAGCCCACTCTGTAATC TACCCCCCGGAAGCCCAGTTTACACCTGATATTCCAGTTCCACGACCTTA AATTTCAGAAATGTGAAAGAAGGTACACAAAATATCCATGTGTATAAAGA ATTGAGGATGTTTATTGAGCACTTACTAGATGTTAGGGGCAGCTCTAGCT GCCTTATGCACATGATCTCATTTAATCCTGCAACAAACCTGTGGGGTCTC TCCTGTTATCACCTCTGTTTTACAGGTAGGGAAACGGGTTGAGCAACTTG TTCAAGGTCACACAGTTGGAAAGTGCTGAATCTGAATCTTCTGGGAGGCA AGAGAAAAGAGGGACAAGAAAAGAAGAAAGGAAGGAAGGAAGGAGAGCCT AGGAAAGAGTGAGAAAGAAAGACTGGAGCAGCGACTGTGGTGTGGGGTTG GAGAGAGAATGAGTCAAGTGGAGTTTTAGGAAGTCTCAGTGTGTGATGAG GCTTTTGGAGTTAGATGCTAGCTCGCTTGTCTGTGAGTAGTGCCTGTTAT ATTCAGGTTACATTTTGGAGTTAATTATTTCAGATTTTGGACCTAAATTT CCACATTCAGCCACCAGAACTGAGCCAAACATGCCCTCCAGGATGTTGGG CTTAGGATGCAAGGGCTGGGGAGTTTGGAGGTAAACTATGGTTGTACTTA GAACGCCCCCTTGTAAGTCATAGCAAAACGATGTGAACCATACCTTGGTA GAATATGCTGTCCTGTACTAAATGTATCAGACAGATAACCAGACTTCCAT TGTGTTATGTGAGCTCTCCCCATTCAGAGAAAACCTATGAAATGACCGTG GAAGGAGAGGTGGCAGGCTGGAAACCCAATGATACCCAATGTCTAAGAAG TTCCCAAGGATACCCAATGTCAAGAAGTTAGAAGGGGAAGGGGAGAATAC AGAGCCCAGAAATAAATCCAAGCCTGTACAGCCAATTAAGTTTCAACAAG GGCACCAAGAAGACACCTTGGGGAAAGGATAGTCTTTTCAATAAATGGTG TTGGGAAAACTGAATATTCACATGCCAAAGAATGGAATTGGACCCTTATA GCACACACAAAAATAAACTCAAAATGGATTAAAGACCTAAATATAAGACC CAAAACTGTAAAACTCCTAGAAGAAAATATAGGGGAACTATTACACGACA TTGGTCTTGACAATGATTTTTTGGATAAGACACCAACAGCACAGGCAACA ATAGCAAAAATAAACAAATGGGACTACATGCTGAAAAGCTCTGGACCGAG CACGGTGGCTCATGCCTGTAATCCCAGCACTGTGGGAGGCCGAGTTGGGT GGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCATCATGGTGAAA CCCCATCTGTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGC CTGCAGTCCCAGCTACTCAGGGGGCTGAGGTGGGAGAATCACTTGAACCT GGGAGGTGGAGGTTGCAGTGAGCCGAGATCATACCACTGCACTCCAGCCT GGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAATTAATTTGAGGAAAT TTTATGGTTTGGTTTTGTTTTGTTGGAGACAGGGTCTCACTCTGTCACCC AGGCTAGAGTGCAGTGGCTCCATCTCAGCTCACTGCAGCCTCATCCTTCT GGGCTCAAGTGATTTTCCCATCTCAGCCTCCTGAGTAACTGGGACCACAG GTGTGCGCTACCACACCTAACTAATTTTTAAGATTTTTGTAGAGATGGGG AGGGGGAGATCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTC AAGCAATCCTGCCTCAGCCTCTCAAAATGCTGGGATTACAGGCATGAGCC ACTGTGCCCGGCTGAAATTTCACTTTTTTCCAATATTGGATATTTTCATC CAGGAATATAAAATGCTTTAAAACAAAGTTGTTAATTTTTTTAATAAACG TTTTTAGCCTAATAAGGAAAAAAAAGAAACAAAAAAGAAAGGGAGTTGGG GAAGATACGTTGCTGACATGACTAAACTGGTTCCAAGTGTTGGGGGAGGA AAACTTTTCCTCTATCCTCTTAGGTTCAGTACTTGAAGGCCTGAGAATTA AACCGATAAAAGAGAAATGACCGATTTTTATTCAGAATGTAGGGAAGTTC ATGGAAGAGTGTGACTCTAGAAGGAAGTTAGAATTTGCGGGTTATGTACC ATCTCAATAGAAGAAGGGGAGGAGGAGAAAGGACACTTATAGAAAAGTAA TTTTTAGGAAAGATGAATGGGCCCTTAGGAGAAAAGATGGGAGCTATTAT AGTTTCGTGACCTGACTGTTTAGGTGTGGTGCCAACTATTCTCCCCTCCA GCAATAAGTCAATTTTCCCTGGTTTTGAGAAACTCCTGGGAGGGGGATTT ATGACAATGGAGCTCTTTTGCAGGGCTCTGCATTTAGGCAGACAAAGGAG TTCAGAAAAGAGCCTATTCTCATCCAGCCTGGGCAGCATTGCGAAACCCT GTGTCTGAAAACAAACAACAACAGCAACATAGCCGGTGGTGGCACGCACG TGTAGTCCTAGCTACTTAGGAGGCTGAGGCAGGAGGATCACTTGAGCACC AGGAGGTTGAGGCTGCAGTGAGCCATGGTCGCACCACTGCATTCCAGCCT GGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGAAAGAAAGAA AAGAAAAAGGCCCATTTTCAAATGCCTTCTGCTCAGAATAATTTTTATGC TTCAGTGGCATTCTCTAGACCCCTTCACAAGCCATGGGGATTCCGCTGCC CTATGGGAAAAGTGGTCATTGGTAGAGGCTGCCGTTGTCAGAATCCAGAG AGATTTGTAGGGAATAAAGTACAGATGCTCCTTGACTTACGATGGGGCTA CATCCTGATAAACACATTGTTTAAGTTGAAAATATCGTAAGTTGAAAATA CGTTTAATAGGCCGGGCACGGGGGCTCACGCCTGTAATCCTAGCACTTTG GGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGA CCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGC GTGGAGGGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATCACTTGAACCCGGGAGGCGGAGGTTGCAGCGAGCCGAGATCGTGCCAT TGCATTCCGGCCTGGGTGACAGAGTTAGACTCTGTCTCCAAAAAAAAAAA AGAAAAAGAAAAAGAAAATACATTTAATGGGCAGGTGTGGTGGCTTGTGC CTGTAATCCCAGCACTTTAGGAGGTTGAGGTGGGCGGATTGCTTGAGCCT AGGAGTTTAAGACCAGTGTGGGCATCATGGTGAAACCCCATCTCCACTAA AAATATAAAAATTAACTCCGGGCATGGAGGCTCACACCTATAATCCTAGC ACTTTCGGAGGCCTAGGTGGGCAGATTGCCTGAGCTCAGGAGTTCGCAAC CAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATACAAATAAA TAAATAAATAAATAAATTAGCTGGACGTGGTGGCATGTGCCTGTAGTCCC AGCTACTCAGGAGGCTGATTCAGGAGAATTGCTTGAACCTGGGAGGCAGA GGCTGCAGTGAGCCGAGATCGCACTATTGCACTCCACTCTGGGCAACAGA GACAGACTCCATCTTCCCCCCGCCGCAAAAATAAATAAATAAATAAATAA ATAAATAAATTAGCCAGGCATGGTGGCACACGCCTATAGTTCTAGCACTT GGGGAACTGAGGTGGGAGGATCACTTGAGCCCAGGATGTCAAGGCTGTAG TGAGCCATGATCATGCCACTGCATTCCAGCCTGGGTCACAGAGTGAGACC CTGTCTCAAAAAAAAAAAAAAGTATTTAATACACCTAACCTACTGAATAT CATAGCTTAGCTTAGCCTACCTTAAATGTGCTCAATCAGAATGCTTACAT TAGCTGGGAAAAATAACACAAAGCCTATTTTAGAATAAAGTGTCGAATAT ATCTCATGTAATTTATTGATGTTCTACTGAATGCATATTGCTTTTGCACC ATCATAAAGTTGAAAAATTGTCAGTCAAACCATTGTAAGTGGGGACCATC TGGTTCCTTGAGCTGTGGTTAGACTGTGCCTCTGCTGTGTAGGCGTGTGA TGCTGAAAAGCAGCAGAAATTGAGAGTCTACAGGAGCACTGGCCGTTGGA AATAAAATGCAAGCTACATAATGGTTGGGGTCTTGGTCACTTGCTTCTGC AGAGCCCAAAGCCCAACTCCCTACTCACTTTTGAAGACCAGGGACATTTT CCTTATGCCCCCCACAGTCCAAAACACGGTGCCAGGCACACTGTGGTCAT TCAGTGAACACATGAAGGGGACATGAATGCAGATCTCCAGGACCGAATGT GGCACCAAGAAGCGTGACTCAGCCCTGCTCAGGGCCTGAGACCCCTCCTG GGTTAAGGTATTGAAAGCTCCTCTTGTTGAGCACATAATTCATATGTGGC AGACACCATTACCTGGTTTCCTAATAGCCATTGTCCCCTTCCCTGCCAAC TGAAACCCAATATTGTTTGGGCATCAATGAACCTGGCCCCAGGAGAAGGA TCTTATTCCCTTTGCTTTCCCAGCGTCCCTTGCAGCTAGAAGTAGTCAGA TAACCTAGTTCTAGCCACTGAGATATGAAGAGAAGTCGGCCTTGAGGATT TGAGGAAAGATAAGAAGAGGGTATGGTCCAGGTGCCATGGTTCATGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTAAGG AATTCAAGATCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAA TGCAAAAAATCAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACT TGGGAGGCTGAAGCAGGAGAATCGCATGAACCCAGGAGGCAGAAGTTGCA GGGAGCCGAGATCGTGCCACTGCACTCTGGCTTGGGCAACAAGAGCAAAA CTCTGTCTCAAAAAAAAAAAAAAAAAAAAGGGTATGCAAGAAGAAACTCT CTGCTCCTTCTCCCGCCTTCCCAGCTGCCAGCTACTCCATGCTTCCTGCC TTCGAATACGGTGAGAACGTGAAGTCATGAGCTGCTGCTAAGGCATGTGG CAACCTTGAAGAGAAGGTCAAGAGCTACCAGCCACCAAAAGAATGCCAGC ACTTCCTGTGTCTTTGCTTTGGATTCATGAGAAATATACGTTCCTATTTG CTTCAGCCATAATTACTTGGGTTTTTCTGCTACTCACAGTTGAATGCAAT CCTAACTCATAAGCCTGTGGTTACAGGAGGATTCATTGATCACAGAACTG CAAGATCCTGGGGCTGGGACGACATCGAAGTTTCATTCAGTTCACTGTCC CTCACTCTCTGTGGGAATCTCCTCTCTAGCATCTCCACCGAGGGGTCAGT GAGCTTCCACCTGCGTACCTGGATGATGGGCACCTCAGTACTGACTAAGG TAACTCATGTTTGATGGCTCCAGGGGATATACAATTTTTATATTAAGGCA AAATTAAATTCCTTGCAGTTTCCACCCATTTTTCTTAATGTGAATAATTG GGAAAGAAAAAGGAATCATAAGGCCGGGCACGGTGGCTCATACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACCTGGGGTCAGGAGTTT GAGACCAGCCTGGCCAACACGATGAAACCCCGTCTCTACTAAAAACACAA AAATTAGCCGGGCGTGGTGGTAGGCGCCTGTAATCCCAGCTACTAGGGGA GGCTGGGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAG CCAAGAGATCACTCCGCTGCACTCCAGTCTGGGCAACAGAGAGAGACTCT GTTTCAAAAAAAAAAAAAAAAAGGAATCATAGAAGCAGGGCAGTGGAGTT AGATGGTAGAGTGCCAACATTTTCTGATTATGTGACATTGGGCAAGCTCC TCTCTGAAACTTGGTCTCTATCTATAAAGTGGAGATGAGAAATTCTCCCT CCTGGGATCCTTGTGAGCATTTGCTGGCAGAGAGTAAGCTCATAGCAATT GAGAGTGGTCTGACCCCTTAACACATGAGTTGTGTCAGCTAGCTGTGTCA TATTTGAGAATTGTGTCCAGAAAAGAGGTGAGAGCCCAGGACTCTGATGC CTCTGATGCAGGGTGACGAACATGGGCCATTAAAACTCCTTACCCACAAG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCATGCACATGTG CCCGCTTGTCTCTTTGAGAACCGGAGGGACAAGGAGGGCATCCCAGGTAG GTGTGACTTCTCCCCAGAAATGGAGGGTTTCCCAGGCTGGCTGGGCCGCC TTCACAGCTTTGTCTTCAGTCTCCCATCTGTTTGGCCACAACTTCTTCAG CCCCAGACCCATCCCTTGTTCTTCTGACCTGCCTGAAGCCTGCCCTGGTG GACCAAAGGCCTGATGCAACTTCAGAGAAGATGCTGAGTCAGAAAGAATA TGCAGGAGACTGGGAAAGGTTTGCAGGAGGCCTTTAATTGTGAAGAGCGC AATCAGAAAACAGATATGCTGGTCAAGGAGGTGGCCAGCCCGGGAGATGC GCTGGAGCAGGGGAGAGATGCCCCTGCGCCTAGTGGCCTACAGCATTCTG GGCTAGGTGTGGGAGTGGGTGGGCAGTCTCACTGCTTGGAGCGTCCAGCG TCATGGCAGATGCCAAAGTTGGTGTTGGTGATGGAGCCCACGATGGTCTT GTCTCCCTCACAGGTCAGGCCACGCTCACAGGGACACTTGTAGTAAATCC CATAGAGCGTCTGCAGAGACACAGCCAATGGAGTCAAGGCTATGGGGAGA TACTTTGGACATCACTTGTCCCCTGCCTGACCTAGAGAACCAGTAGGCCA GCCTGTGTTTTCGGGGAGTGCCTCTCCCACCTGCCTCCCCAGGGGTGCCG TGGGCCCTGGAGACCCCAGCTCTGACCTCTGCTCTGGCTCATTTGCTCTT ACTAGCTTGATCTCTCTGGGGAGCCTCTATTTACCCAGCCATGAAATGGG GATAACAAATCCCCACCCCCACCCATCTCACTGGTCACTCGGGAGGGTCA AGAGAGATGATGGGATGGGAAAGTGCTTTGACACCTGTCGACCTCCCTCT CGTCTCCTCAACATTCAGTGTCCAGGCTGACCCCCCTCCCTGATCCCACT CACAAGTGTTCAGGGCCCTACTCCCCATTCTCCCCCACCCACGCCAAGTC CTCAGGCACCCACCTTGACAGAGCACTCGCTGTTCTCGCTGGCCATGGAT GTGCAGCGGGCCAGGCCCAGCGCACTTGAATGCTGGCAGCAATTGCTCTT ACACTGGGCACTATTCATGCAGAGCTCACCGTTCTCCTGCCAGGAGCAGC CAGTCAGCCCAGGCCCCACTCCCTCAGGTCCCTTCTCCATTCAGACCTGT ACCCACCACACACTACCACTAACAGTGTCTCCCCTGGTAGGGATGTGTGT GAAGGAGTCCATCCCCTGGGTCTGGTGGCCTCTGTGCCCCCAACCCACGT GAGAAGTGGGCATGCGGTGACAGAGAAGCAGACCTGCACAGAGGGTCAGG ACCCCTGGGTTCTAGTACCGGCTGTGCTACCAACCTCCTGTGTGACTCTG GGCAAGTCACTGCCTCCCAAGCCTCAGTGTTCCCATTTGGAATGTGCACA CAAGGCCCCTAGACAAGTTCTCCAAACCACTCTGGGTCCCACACCTCTTT AAGGAGGCGGTGAAGATTGCATCTCCCTGCAAGACTCCTTCCTCCCCCAA CAGATCTGATCTATAATCTCCAAGGGTCCTGGACCTCCAAGTCCAGCCAT GGCCCCAAGTTAAGAGAGTTCAGAACCTTTCAACCGCATGGACGTTCTGG AAGGGCTTTCCCAGCCAAGATCCATGGTGGAGAGGTGGTGTGGGGCAGTG GTGGGGCCCCAGCTGAACCACTTTCCAGCTATGTGACCTCAGGCAGGTTG CTCACCCTCTCTCTGTCTGAAGACAGGGCTGACTCTGAAAACACCTCCCT CAGTGGTTATTATGAGAACAGAATGAGTAAACATCTCCGAGGCATCTCCA TAAGTCAGAAGCTGGAATGATTGGCGCAAAGCATTTTCTCAGGATGGAAG CCCAGGGCTCTGGATTTTTACAAAGCTCCCTCGTAGGGCCAGGTGAGGTG GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCAC GAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACCCTGTTTC TACTAAAAATACAAAAAATAGCTGAGCGTTATGGCAGGCACCTGTAATCC CAGCTTCTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCGGGAAGCAG AGATTGCAGTGAGCCGAGATTGTGCCACTACACTCCAGCCTGGTGACAGA GCAAGACTCCGTTTCAAAAAGAAAAAAAAGAGAAAAAAAGGTCCCTCATA GCCAGGTTGAGCTGCTGCTCTGAGCATGCTCCAGTTGGAGCTGGAGAGGG GCTGATCAGCCTTTCCTGTGGCCTCTGGGAAGAGGCATAGGACAGGACAT GGAAGTAAACAGAGGGATGCAAGATGCCACTCCTCCCAGCCCCTGCCAGT CCAGGTGGAGACATCAGAGGTCAAGGTCCAAGCTTAGGAAGTCTTCATCC GGGGACTCAGGAGGCGCCTCCCCTGAAGACCCTCTTACCAGGTTGATAAT GATCCCCCGGGGGCCAGGAGCTGCATAGGCCACAGAGAGGGCGACAAGCA GGAGGATCAGGATCTTCTCCATGGCGAGTGGGACAGCTGGTGTGGGTGGC GGGAGACAGAGCCAGCTGTGGTGATGGGGCTATAAAAGGGGCCCTGACCT CACGAGACCCACCTGCATCCCACAGGGCTGGCCATGGGCAGAGGCACAGC TGTGGCCAATCTGCTGTGGGGCGGTTCCTGATAAGGAAACTGGGTGAGTA CCTGGTGGCCTTTTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT TGGTGATAATTGTGTTGCATCGTGGTTAAGAGTATGGACTGTGTACAAGT TATTAGTGAGGCAAACTTACTATCTGTTCCAACTATTCTGCCTTTCATCT TATCTGTCAACTAAGGATAATTTAAAGAGTTGTGAGGGTTGAATTAATAC ACATTTATATGTGTTACATATATATAAACATTATTATATACAATTATAAG AATATATTTATATTGTATATTCCCATATGCCACATAAGCAGTGGGTAAGG GTGGCTGCCCTTGTGTCTTGAGCTCCTGGGCAGTGCCTGGACGAATCCAA GGCAAGAGAGGCACCTATGGTGTGAGTGCCTGCTTACATTCTGTGTACTT GGGGCCTCTCTGCCTCACTATAGTCAGGCCTTGCCTTTGGCCCACCCAAG CCCAGGTGTCTAGCAGTGTCAGACTCCAGGGACGAGGATCCCAGCCTCCC ACCCCTCAACCTTCCTTCAGTCTCCTCGGGGGATTCCAGGCCATGCCCAG ATCCCTGGGGCTGACAGTTCTGCAACCCCCAGCAGGCCAGGGTGTGTGTG CTTTCACTTTGGCACCCTCCCCCTGCCCTCACACCAGGGGCTGCCTGCAG GCCTGACTCAAGGGCCCTTAGGAGGCCCTTCCTAAATGCCTCTCTCCCCT TTCCTTTCTACCTCACTTACTATCTGCAATTCCAGCATCAGATACTCACC CCTTTAGTTAAGGTTTCCACTCACGCTGCCCCCTACCCAAGGCCACGTGC GCGCGTGAGCAGTCGCTAGTCCTGGCTGAGAATGAAGAGGTCTCATGAGC CTCAGATGGAGCAGGGGCCTCAGGAAGCTGGGAAGGGCACAGCTGCCTGA GTTTGCTCAGGCATGGGAACAGAGCAGCTTTTCCTGAAGGACTAGTCATG GCAGCCAGAGGCCCCTGCCCTTCCCCTCTCCATCCCAGGAGGTAGAAGAC AGCTCCACTGAGAGGCCCAGGCCTCAAGCACAGCTTTTAATTTAATTTAA TTTAATTTTTTGAGACAAGGTCTCTCACTCTGTCACCTAGGCCGAAGTGC AGTTGTGCCATCTTGGCTCACTGCAGCCTCCACCTCCTGAGATCAAGCAA TCTTCCCCCTAAGCCTCCCAGGTCTAAAACTCGTGGGCTCAAGCAATCTT CCCACCTCGGCCTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACTGTGC CCAGCCTCAAGCACAGCTTTGATCCAGACCAAGCTGGCTTCAAAATTCAG CATTTACTGGAGCTACGTGGCCTCAGACACATTATTGAAAGTGAAGCTCC CTGAACCTCACTTTCCTTATTTATCTTAGGGGGATAACGCCTCCTACTTC CTGAGGTCATGATTAAGACAATGCACGTGGAACACCTTCGGAAGTGCCTG GCACATGGTGGGTGCCCAGCCATGTAATATGACCCCCTTCCTCTCACCTT TACATCCCTGGGGTGTGGAATGTAGAGAAATAGCTGGAGGAACCTTTTAA AAACTGTTCAGTCCCCTCCAGGCATCCACCGTCTGCACAGACTTACCCCG GCCCCCACGTAGAGACCACCCTGCCTGGCAGGAGCCAGAGGTGATGGTGG GAGCAGAGTCTGGGGAGGAGCCCCGTAGGGAGAAAGCCCCAGGCGGGGCG GCGAGGGCGGAAGGCGGGCGGTGGAGCCTGGCGGTGCCGTGTCCCTCCCT GCAGGAGCTCAAGGAGTCTTGCATCCGGAACCAGGACTGCGAGACTGGCT GCTGCCAACGTGCTCCAGACAATTGCGAGTCGCACTGCGCGGAGAAGGGG TCCGAGGGCAGTCTGTGTCAAACGCAGGTGGGTATCGCCGCCCGGGGGGA GCCAGAGGGGATCCAGGGGAAGTGGGAGCCAGGGCGGGCCCAGATTCCTG GGGAGGAAAGAAGGGTAGGTGGGCGGAAATGCCCTGGAGCCTGGAATTCC CCCGTGGGACTGCACCTCCAAGCCTTCTGGGGGAGCCTGTGGACGGAACC AATATGGTAGCCCACCCTAGGGTTTTGGAATCCTGGATTGGGGCGGGAAG GCGATGTTTCACTTTCTAATGTGGGTTCACATTCTCCAGGAGTCTTCTCA GCAAATTCCGAAAGTAGTACAGTAAATGGGCACAGCTAGGTCCAGCCTCT GCCCCAGAGCCCCGTCTTCATCCAGCTCAGGAGTTCTGCTGTGGCCCCGG GTGTTCCTGGTGGAGGATGGGCAGAGGCAGCCTCTGAGCTGGGTGTGTAG GGGAGGGAGTTGATTTGCCCATGGAAGGATTTAAAGACAAGACATAGAGG TCCTGCGATGGTGTGTCCATGGACTTAGGACAGGCAGATGGGTCAGTGAC AGGCAGGGTTACAAGGTCTGGAGCTGGGAGGACACTGAACAATCCAGGAG CCAGCCTGGAGAAGGCAGCCAGAGGTGCCACTCTGAGCAGCTGGCAAGCT ATCATTTATCCCTGGATCCTGGCTGTGGGCAAGCACATGGGCCCTGGAGC TGGGCTGGGCTGGGCTTAGGGGCTCAGGGAAGAGCTGCCGCCAAGGTCGA GGTCAAAGTCCTGTCTTTCCCAGGTGTTCTTTGGCCA	p.Gln others(12236): Show p.Gln79_Tyr80insTyrArgAlaCysProCysLeuArgAsnLeuThrC ysIleTyrSerLysAsnGluLysTrpLeuSerIleAlaTyrGlyArgCys GlnLysIleGlyArgGlnLysLeuAlaLysLysMetPhePheTerCysSe rLeuLeuLeuAlaAlaSerSerSerSerThrCysSerProProTyrProG luLeuCysValHisProValProGlnSerLeuHisHisGluTrpArgGlu ValGlySerAspTerAsnLysGluLeuPheGlnCysLeuLeuProThrGl uLeuGlyProGlyTrpAlaGlyLeuGlyTrpAlaTrpTyrArgPheLeuG lyGlyGlyGluValIleTerGlyArgLysGlnGluGlyThrLeuLeuAsp LeuGlySerPheProSerTrpGlyMetAsnGluSerProProGluGluTh rLysAlaProPheProProGlnProLeuSerAlaPheSerProLeuCysA snLeuProProGlySerProValTyrThrTerTyrSerSerSerThrThr LeuAsnPheArgAsnValLysGluGlyThrGlnAsnIleHisValTyrLy sGluLeuArgMetPheIleGluHisLeuLeuAspValArgGlySerSerS erCysLeuMetHisMetIleSerPheAsnProAlaThrAsnLeuTrpGly LeuSerCysTyrHisLeuCysPheThrGlyArgGluThrGlyTerAlaTh rCysSerArgSerHisSerTrpLysValLeuAsnLeuAsnLeuLeuGlyG lyLysArgLysGluGlyGlnGluLysLysLysGlyArgLysGluGlyGlu ProArgLysGluTerGluArgLysThrGlyAlaAlaThrValValTrpGl yTrpArgGluAsnGluSerSerGlyValLeuGlySerLeuSerValTerT erGlyPheTrpSerTerMetLeuAlaArgLeuSerValSerSerAlaCys TyrIleGlnValThrPheTrpSerTerLeuPheGlnIleLeuAspLeuAs nPheHisIleGlnProProGluLeuSerGlnThrCysProProGlyCysT rpAlaTerAspAlaArgAlaGlyGluPheGlyGlyLysLeuTrpLeuTyr LeuGluArgProLeuValSerHisSerLysThrMetTerThrIleProTr pTerAsnMetLeuSerCysThrLysCysIleArgGlnIleThrArgLeuP roLeuCysTyrValSerSerProHisSerGluLysThrTyrGluMetThr ValGluGlyGluValAlaGlyTrpLysProAsnAspThrGlnCysLeuAr gSerSerGlnGlyTyrProMetSerArgSerTerLysGlyLysGlyArgI leGlnSerProGluIleAsnProSerLeuTyrSerGlnLeuSerPheAsn LysGlyThrLysLysThrProTrpGlyLysAspSerLeuPheAsnLysTr pCysTrpGluAsnTerIlePheThrCysGlnArgMetGluLeuAspProT yrSerThrHisLysAsnLysLeuLysMetAspTerArgProLysTyrLys ThrGlnAsnCysLysThrProArgArgLysTyrArgGlyThrIleThrAr gHisTrpSerTerGlnTerPhePheGlyTerAspThrAsnSerThrGlyA snAsnSerLysAsnLysGlnMetGlyLeuHisAlaGluLysLeuTrpThr GluHisGlyGlySerCysLeuTerSerGlnHisCysGlyArgProSerTr pValAspHisLeuArgSerGlyValArgAspGlnProGlyHisHisGlyG luThrProSerValLeuLysIleGlnLysLeuAlaGlyCysGlyGlyAla CysLeuGlnSerGlnLeuLeuArgGlyLeuArgTrpGluAsnHisLeuAs nLeuGlyGlyGlyGlyCysSerGluProArgSerTyrHisCysThrProA laTrpAlaThrGluGlnAspProValSerLysLysLysLeuIleTerGly AsnPheMetValTrpPheCysPheValGlyAspArgValSerLeuCysHi sProGlyTerSerAlaValAlaProSerGlnLeuThrAlaAlaSerSerP heTrpAlaGlnValIlePheProSerGlnProProGluTerLeuGlyPro GlnValCysAlaThrThrProAsnTerPheLeuArgPheLeuTerArgTr pGlyGlyGlyAspLeuThrMetLeuProArgLeuValSerAsnSerTrpP roGlnAlaIleLeuProGlnProLeuLysMetLeuGlyLeuGlnAlaTer AlaThrValProGlyTerAsnPheThrPhePheGlnTyrTrpIlePheSe rSerArgAsnIleLysCysPheLysThrLysLeuLeuIlePheLeuIleA snValPheSerLeuIleArgLysLysLysLysGlnLysArgLysGlyVal GlyGluAspThrLeuLeuThrTerLeuAsnTrpPheGlnValLeuGlyGl uGluAsnPheSerSerIleLeuLeuGlySerValLeuGluGlyLeuArgI leLysProIleLysGluLysTerProIlePheIleGlnAsnValGlyLys PheMetGluGluCysAspSerArgArgLysLeuGluPheAlaGlyTyrVa lProSerGlnTerLysLysGlyArgArgArgLysAspThrTyrArgLysV alIlePheArgLysAspGluTrpAlaLeuArgArgLysAspGlySerTyr TyrSerPheValThrTerLeuPheArgCysGlyAlaAsnTyrSerProLe uGlnGlnTerValAsnPheProTrpPheTerGluThrProGlyArgGlyI leTyrAspAsnGlyAlaLeuLeuGlnGlySerAlaPheArgGlnThrLys GluPheArgLysGluProIleLeuIleGlnProGlyGlnHisCysGluTh rLeuCysLeuLysThrAsnAsnAsnSerAsnIleAlaGlyGlyGlyThrH isValTerSerTerLeuLeuArgArgLeuArgGlnGluAspHisLeuSer ThrArgArgLeuArgLeuGlnTerAlaMetValAlaProLeuHisSerSe rLeuGlyAspArgAlaArgLeuCysLeuLysLysLysLysLysLysGluA rgLysGluLysGlyProPheSerAsnAlaPheCysSerGluTerPheLeu CysPheSerGlyIleLeuTerThrProSerGlnAlaMetGlyIleProLe uProTyrGlyLysSerGlyHisTrpTerArgLeuProLeuSerGluSerA rgGluIleCysArgGluTerSerThrAspAlaProTerLeuThrMetGly LeuHisProAspLysHisIleValTerValGluAsnIleValSerTerLy sTyrValTerTerAlaGlyHisGlyGlySerArgLeuTerSerTerHisP heGlyArgLeuArgGlnAlaAspHisLysValArgSerSerArgProAla TerProThrTrpTerAsnProValSerThrLysAsnThrLysIleSerTr pAlaTrpArgAlaArgLeuTerSerGlnLeuLeuGlyArgLeuArgGlnG luAsnHisLeuAsnProGlyGlyGlyGlyCysSerGluProArgSerCys HisCysIleProAlaTrpValThrGluLeuAspSerValSerLysLysLy sLysGluLysGluLysGluAsnThrPheAsnGlyGlnValTrpTrpLeuV alProValIleProAlaLeuTerGluValGluValGlyGlyLeuLeuGlu ProArgSerLeuArgProValTrpAlaSerTrpTerAsnProIleSerTh rLysAsnIleLysIleAsnSerGlyHisGlyGlySerHisLeuTerSerT erHisPheArgArgProArgTrpAlaAspCysLeuSerSerGlyValArg AsnGlnProGlyGlnHisGlyGluThrProSerLeuLeuLysIleGlnIl eAsnLysTerIleAsnLysLeuAlaGlyArgGlyGlyMetCysLeuTerS erGlnLeuLeuArgArgLeuIleGlnGluAsnCysLeuAsnLeuGlyGly ArgGlyCysSerGluProArgSerHisTyrCysThrProLeuTrpAlaTh rGluThrAspSerIlePheProProProGlnLysTerIleAsnLysTerI leAsnLysTerIleSerGlnAlaTrpTrpHisThrProIleValLeuAla LeuGlyGluLeuArgTrpGluAspHisLeuSerProGlyCysGlnGlyCy sSerGluProTerSerCysHisCysIleProAlaTrpValThrGluTerA spProValSerLysLysLysLysSerIleTerTyrThrTerProThrGlu TyrHisSerLeuAlaTerProThrLeuAsnValLeuAsnGlnAsnAlaTy rIleSerTrpGluLysTerHisLysAlaTyrPheArgIleLysCysArgI leTyrLeuMetTerPheIleAspValLeuLeuAsnAlaTyrCysPheCys ThrIleIleLysLeuLysAsnCysGlnSerAsnHisCysLysTrpGlyPr oSerGlySerLeuSerCysGlyTerThrValProLeuLeuCysArgArgV alMetLeuLysSerSerArgAsnTerGluSerThrGlyAlaLeuAlaVal GlyAsnLysMetGlnAlaThrTerTrpLeuGlySerTrpSerLeuAlaSe rAlaGluProLysAlaGlnLeuProThrHisPheTerArgProGlyThrP heSerLeuCysProProGlnSerLysThrArgCysGlnAlaHisCysGly HisSerValAsnThrTerArgGlyHisGluCysArgSerProGlyProAs nValAlaProArgSerValThrGlnProCysSerGlyProGluThrProP roGlyLeuArgTyrTerLysLeuLeuLeuLeuSerThrTerPheIleCys GlyArgHisHisTyrLeuValSerTerTerProLeuSerProSerLeuPr oThrGluThrGlnTyrCysLeuGlyIleAsnGluProGlyProArgArgA rgIleLeuPheProLeuLeuSerGlnArgProLeuGlnLeuGluValVal ArgTerProSerSerSerHisTerAspMetLysArgSerArgProTerGl yPheGluGluArgTerGluGluGlyMetValGlnValProTrpPheMetP roValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerProGluVal ArgAsnSerArgSerAlaTrpProThrTrpTerAsnProValSerThrLy sAsnAlaLysAsnGlnProGlyValValAlaGlyAlaCysSerLeuSerT yrLeuGlyGlyTerSerArgArgIleAlaTerThrGlnGluAlaGluVal AlaGlySerArgAspArgAlaThrAlaLeuTrpLeuGlyGlnGlnGluGl nAsnSerValSerLysLysLysLysLysLysArgValCysLysLysLysL euSerAlaProSerProAlaPheProAlaAlaSerTyrSerMetLeuPro AlaPheGluTyrGlyGluAsnValLysSerTerAlaAlaAlaLysAlaCy sGlyAsnLeuGluGluLysValLysSerTyrGlnProProLysGluCysG lnHisPheLeuCysLeuCysPheGlyPheMetArgAsnIleArgSerTyr LeuLeuGlnProTerLeuLeuGlyPhePheCysTyrSerGlnLeuAsnAl aIleLeuThrHisLysProValValThrGlyGlyPheIleAspHisArgT hrAlaArgSerTrpGlyTrpAspAspIleGluValSerPheSerSerLeu SerLeuThrLeuCysGlyAsnLeuLeuSerSerIleSerThrGluGlySe rValSerPheHisLeuArgThrTrpMetMetGlyThrSerValLeuThrL ysValThrHisValTerTrpLeuGlnGlyIleTyrAsnPheTyrIleLys AlaLysLeuAsnSerLeuGlnPheProProIlePheLeuAsnValAsnAs nTrpGluArgLysArgAsnHisLysAlaGlyHisGlyGlySerTyrLeuT erSerGlnHisPheGlyArgLeuArgTrpTrpIleThrTrpGlyGlnGlu PheGluThrSerLeuAlaAsnThrMetLysProArgLeuTyrTerLysHi sLysAsnTerProGlyValValValGlyAlaCysAsnProSerTyrTerG lyArgLeuGlyGlnGluAsnArgLeuAsnLeuGlyGlyGlyGlyCysSer GluProArgAspHisSerAlaAlaLeuGlnSerGlyGlnGlnArgGluTh rLeuPheGlnLysLysLysLysLysGlyIleIleGluAlaGlyGlnTrpS erTerMetValGluCysGlnHisPheLeuIleMetTerHisTrpAlaSer SerSerLeuLysLeuGlyLeuTyrLeuTerSerGlyAspGluLysPheSe rLeuLeuGlySerLeuTerAlaPheAlaGlyArgGluTerAlaHisSerA snTerGluTrpSerAspProLeuThrHisGluLeuCysGlnLeuAlaVal SerTyrLeuArgIleValSerArgLysGluValArgAlaGlnAspSerAs pAlaSerAspAlaGlyTerArgThrTrpAlaIleLysThrProTyrProG lnValCysValCysValCysValCysValCysValArgAlaHisAlaHis ValProAlaCysLeuPheGluAsnArgArgAspLysGluGlyIleProGl yArgCysAspPheSerProGluMetGluGlyPheProGlyTrpLeuGlyA rgLeuHisSerPheValPheSerLeuProSerValTrpProGlnLeuLeu GlnProGlnThrHisProLeuPhePheTerProAlaTerSerLeuProTr pTrpThrLysGlyLeuMetGlnLeuGlnArgArgCysTerValArgLysA snMetGlnGluThrGlyLysGlyLeuGlnGluAlaPheAsnCysGluGlu ArgAsnGlnLysThrAspMetLeuValLysGluValAlaSerProGlyAs pAlaLeuGluGlnGlyArgAspAlaProAlaProSerGlyLeuGlnHisS erGlyLeuGlyValGlyValGlyGlyGlnSerHisCysLeuGluArgPro AlaSerTrpGlnMetProLysLeuValLeuValMetGluProThrMetVa lLeuSerProSerGlnValArgProArgSerGlnGlyHisLeuTerTerI leProTerSerValCysArgAspThrAlaAsnGlyValLysAlaMetGly ArgTyrPheGlyHisHisLeuSerProAlaTerProArgGluProValGl yGlnProValPheSerGlySerAlaSerProThrCysLeuProArgGlyA laValGlyProGlyAspProSerSerAspLeuCysSerGlySerPheAla LeuThrSerLeuIleSerLeuGlySerLeuTyrLeuProSerHisGluMe tGlyIleThrAsnProHisProHisProSerHisTrpSerLeuGlyArgV alLysArgAspAspGlyMetGlyLysCysPheAspThrCysArgProPro SerArgLeuLeuAsnIleGlnCysProGlyTerProProSerLeuIlePr oLeuThrSerValGlnGlyProThrProHisSerProProProThrProS erProGlnAlaProThrLeuThrGluHisSerLeuPheSerLeuAlaMet AspValGlnArgAlaArgProSerAlaLeuGluCysTrpGlnGlnLeuLe uLeuHisTrpAlaLeuPheMetGlnSerSerProPheSerCysGlnGluG lnProValSerProGlyProThrProSerGlyProPheSerIleGlnThr CysThrHisHisThrLeuProLeuThrValSerProLeuValGlyMetCy sValLysGluSerIleProTrpValTrpTrpProLeuCysProGlnProT hrTerGluValGlyMetArgTerGlnArgSerArgProAlaGlnArgVal ArgThrProGlyPheTerTyrArgLeuCysTyrGlnProProValTerLe uTrpAlaSerHisCysLeuProSerLeuSerValProIleTrpAsnValH isThrArgProLeuAspLysPheSerLysProLeuTrpValProHisLeu PheLysGluAlaValLysIleAlaSerProCysLysThrProSerSerPr oAsnArgSerAspLeuTerSerProArgValLeuAspLeuGlnValGlnP roTrpProGlnValLysArgValGlnAsnLeuSerThrAlaTrpThrPhe TrpLysGlyPheProSerGlnAspProTrpTrpArgGlyGlyValGlyGl nTrpTrpGlyProSerTerThrThrPheGlnLeuCysAspLeuArgGlnV alAlaHisProLeuSerValTerArgGlnGlyTerLeuTerLysHisLeu ProGlnTrpLeuLeuTerGluGlnAsnGluTerThrSerProArgHisLe uHisLysSerGluAlaGlyMetIleGlyAlaLysHisPheLeuArgMetG luAlaGlnGlySerGlyPheLeuGlnSerSerLeuValGlyProGlyGlu ValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIl eThrArgSerGlyValTerAspTerProGlyGlnHisGlyGluThrLeuP heLeuLeuLysIleGlnLysIleAlaGluArgTyrGlyArgHisLeuTer SerGlnLeuLeuGlyArgLeuArgGlnGluAsnHisLeuAsnProGlySe rArgAspCysSerGluProArgLeuCysHisTyrThrProAlaTrpTerG lnSerLysThrProPheGlnLysGluLysLysGluLysLysArgSerLeu IleAlaArgLeuSerCysCysSerGluHisAlaProValGlyAlaGlyGl uGlyLeuIleSerLeuSerCysGlyLeuTrpGluGluAlaTerAspArgT hrTrpLysTerThrGluGlyCysLysMetProLeuLeuProAlaProAla SerProGlyGlyAspIleArgGlyGlnGlyProSerLeuGlySerLeuHi sProGlyThrGlnGluAlaProProLeuLysThrLeuLeuProGlyTerT erTerSerProGlyGlyGlnGluLeuHisArgProGlnArgGlyArgGln AlaGlyGlySerGlySerSerProTrpArgValGlyGlnLeuValTrpVa lAlaGlyAspArgAlaSerCysGlyAspGlyAlaIleLysGlyAlaLeuT hrSerArgAspProProAlaSerHisArgAlaGlyHisGlyGlnArgHis SerCysGlyGlnSerAlaValGlyArgPheLeuIleArgLysLeuGlyGl uTyrLeuValAlaPhePheValCysValCysValCysValCysValCysV alLeuValIleIleValLeuHisArgGlyTerGluTyrGlyLeuCysThr SerTyrTerTerGlyLysLeuThrIleCysSerAsnTyrSerAlaPheHi sLeuIleCysGlnLeuArgIleIleTerArgValValArgValGluLeuI leHisIleTyrMetCysTyrIleTyrIleAsnIleIleIleTyrAsnTyr LysAsnIlePheIleLeuTyrIleProIleCysHisIleSerSerGlyTe rGlyTrpLeuProLeuCysLeuGluLeuLeuGlySerAlaTrpThrAsnP roArgGlnGluArgHisLeuTrpCysGluCysLeuLeuThrPheCysVal LeuGlyAlaSerLeuProHisTyrSerGlnAlaLeuProLeuAlaHisPr oSerProGlyValTerGlnCysGlnThrProGlyThrArgIleProAlaS erHisProSerThrPheLeuGlnSerProArgGlyIleProGlyHisAla GlnIleProGlyAlaAspSerSerAlaThrProSerArgProGlyCysVa lCysPheHisPheGlyThrLeuProLeuProSerHisGlnGlyLeuProA laGlyLeuThrGlnGlyProLeuGlyGlyProSerTerMetProLeuSer ProPheLeuSerThrSerLeuThrIleCysAsnSerSerIleArgTyrSe rProLeuTerLeuArgPheProLeuThrLeuProProThrGlnGlyHisV alArgAlaTerAlaValAlaSerProGlyTerGluTerArgGlyLeuMet SerLeuArgTrpSerArgGlyLeuArgLysLeuGlyArgAlaGlnLeuPr oGluPheAlaGlnAlaTrpGluGlnSerSerPheSerTerArgThrSerH isGlySerGlnArgProLeuProPheProSerProSerGlnGluValGlu AspSerSerThrGluArgProArgProGlnAlaGlnLeuLeuIleTerPh eAsnLeuIlePheTerAspLysValSerHisSerValThrTerAlaGluV alGlnLeuCysHisLeuGlySerLeuGlnProProProProGluIleLys GlnSerSerProTerAlaSerGlnValTerAsnSerTrpAlaGlnAlaIl ePheProProArgProProLysValLeuGlyLeuGlnValTerAlaThrV alProSerLeuLysHisSerPheAspProAspGlnAlaGlyPheLysIle GlnHisLeuLeuGluLeuArgGlyLeuArgHisIleIleGluSerGluAl aProTerThrSerLeuSerLeuPheIleLeuGlyGlyTerArgLeuLeuL euProGluValMetIleLysThrMetHisValGluHisLeuArgLysCys LeuAlaHisGlyGlyCysProAlaMetTerTyrAspProLeuProLeuTh rPheThrSerLeuGlyCysGlyMetTerArgAsnSerTrpArgAsnLeuL euLysThrValGlnSerProProGlyIleHisArgLeuHisArgLeuThr ProAlaProThrTerArgProProCysLeuAlaGlyAlaArgGlyAspGl yGlySerArgValTrpGlyGlyAlaProTerGlyGluSerProArgArgG lyGlyGluGlyGlyArgArgAlaValGluProGlyGlyAlaValSerLeu ProAlaGlyAlaGlnGlyValLeuHisProGluProGlyLeuArgAspTr pLeuLeuProThrCysSerArgGlnLeuArgValAlaLeuArgGlyGluG lyValArgGlyGlnSerValSerAsnAlaGlyGlyTyrArgArgProGly GlyAlaArgGlyAspProGlyGluValGlyAlaArgAlaGlyProAspSe rTrpGlyGlyLysLysGlyArgTrpAlaGluMetProTrpSerLeuGluP heProArgGlyThrAlaProProSerLeuLeuGlyGluProValAspGly ThrAsnMetValAlaHisProArgValLeuGluSerTrpIleGlyAlaGl yArgArgCysPheThrPheTerCysGlyPheThrPheSerArgSerLeuL euSerLysPheArgLysTerTyrSerLysTrpAlaGlnLeuGlyProAla SerAlaProGluProArgLeuHisProAlaGlnGluPheCysCysGlyPr oGlyCysSerTrpTrpArgMetGlyArgGlySerLeuTerAlaGlyCysV alGlyGluGlyValAspLeuProMetGluGlyPheLysAspLysThrTer ArgSerCysAspGlyValSerMetAspLeuGlyGlnAlaAspGlySerVa lThrGlyArgValThrArgSerGlyAlaGlyArgThrLeuAsnAsnProG lyAlaSerLeuGluLysAlaAlaArgGlyAlaThrLeuSerSerTrpGln AlaIleIleTyrProTrpIleLeuAlaValGlyLysHisMetGlyProGl yAlaGlyLeuGlyTrpAlaTerGlyLeuArgGluGluLeuProProArgS erArgSerLysSerCysLeuSerGlnValPhePheGlyGln	CLPSL1	ENSG00000204140.10	transcript	ENST00000373861.6	protein_coding	3/3	329/598	237/366	79/121	INFO_REALIGN_3_PRIME	chr6	TogoVar
CNDP2_chr18_74491363_74528454	74518940	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0016 a0001c0017 a0001c0020 a0002c0002 a0002c0006 a0002c0007 a0002c0008 a0003c0004 a0004c0010 a0005c0019 a0006c0013 a0007c0011 a0008c0012 a0010c0014 a0011c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0046 a0001c0001t0049 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0021 a0001c0003t0023 a0001c0003t0048 a0001c0005t0002 a0001c0009t0001 a0001c0016t0009 a0001c0017t0002 a0001c0020t0031 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 a0002c0002t0022 a0002c0002t0041 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0047 a0002c0006t0002 a0002c0007t0002 a0002c0008t0001 a0003c0004t0009 a0004c0010t0001 a0005c0019t0001 a0006c0013t0002 a0007c0011t0002 a0008c0012t0007 a0010c0014t0001 a0011c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(255): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0007g0076 a0001c0001t0008g0174 a0001c0001t0008g0239 a0001c0001t0008g0243 a0001c0001t0008g0250 a0001c0001t0008g0252 a0001c0001t0008g0253 a0001c0001t0008g0263 a0001c0001t0009g0074 a0001c0001t0009g0168 a0001c0001t0011g0226 a0001c0001t0013g0001 a0001c0001t0013g0048 a0001c0001t0013g0206 a0001c0001t0013g0210 a0001c0001t0014g0003 a0001c0001t0014g0016 a0001c0001t0014g0197 a0001c0001t0014g0292 a0001c0001t0015g0248 a0001c0001t0015g0249 a0001c0001t0017g0186 a0001c0001t0017g0279 a0001c0001t0018g0255 a0001c0001t0019g0050 a0001c0001t0019g0201 a0001c0001t0020g0049 a0001c0001t0025g0007 a0001c0001t0026g0001 a0001c0001t0027g0016 a0001c0001t0028g0160 a0001c0001t0029g0157 a0001c0001t0030g0016 a0001c0001t0032g0233 a0001c0001t0033g0004 a0001c0001t0034g0185 a0001c0001t0035g0291 a0001c0001t0036g0003 a0001c0001t0046g0077 a0001c0001t0049g0015 a0001c0003t0002g0036 a0001c0003t0002g0116 a0001c0003t0002g0122 a0001c0003t0002g0151 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0007g0044 a0001c0003t0007g0123 a0001c0003t0007g0138 a0001c0003t0007g0191 a0001c0003t0009g0061 a0001c0003t0021g0035 a0001c0003t0023g0036 a0001c0003t0048g0152 a0001c0005t0002g0046 a0001c0005t0002g0069 a0001c0009t0001g0007 a0001c0016t0009g0072 a0001c0017t0002g0073 a0001c0020t0031g0189 a0002c0002t0001g0167 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0012 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0067 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0007g0120 a0002c0002t0007g0121 a0002c0002t0010g0002 a0002c0002t0022g0006 a0002c0002t0022g0128 a0002c0002t0041g0031 a0002c0002t0043g0032 a0002c0002t0044g0083 a0002c0002t0045g0137 a0002c0002t0047g0102 a0002c0006t0002g0066 a0002c0006t0002g0081 a0002c0007t0002g0087 a0002c0007t0002g0136 a0002c0008t0001g0056 a0003c0004t0009g0079 a0004c0010t0001g0228 a0005c0019t0001g0005 a0006c0013t0002g0124 a0007c0011t0002g0002 a0008c0012t0007g0044 a0010c0014t0001g0184 a0011c0018t0001g0004	355	424	0.8373	1	c.121 others(7): Show c.1211-3dupC		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	10/11				INFO_REALIGN_3_PRIME	chr18	TogoVar
CNTNAP3B_chr9_41885536_42134426	41953235	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00280.hp1 HG00558.hp1 others(31): Show HG00099.hp2 HG00280.hp1 HG00558.hp1 HG00642.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01255.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02135.hp1 HG02145.hp2 HG02273.hp2 HG02486.hp2 HG02717.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG04115.hp1 NA18947.hp1 NA18947.hp2 NA18968.hp1 NA18970.hp2 NA19090.hp1 NA20905.hp2	a0001 a0006 a0010 others(3): Show a0001 a0006 a0010 a0013 a0029 a0034	a0001c0001 a0001c0012 a0001c0042 others(8): Show a0001c0001 a0001c0012 a0001c0042 a0001c0043 a0001c0046 a0006c0007 a0006c0041 a0010c0013 a0013c0021 a0029c0045 a0034c0038	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0012t0002 a0001c0042t0013 a0001c0043t0015 a0001c0046t0016 a0006c0007t0002 a0006c0007t0011 a0006c0041t0002 a0010c0013t0003 a0013c0021t0027 a0029c0045t0002 a0034c0038t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(31): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0017g0012 a0001c0001t0018g0026 a0001c0001t0031g0098 a0001c0012t0002g0007 a0001c0012t0002g0009 a0001c0042t0013g0001 a0001c0043t0015g0013 a0001c0046t0016g0015 a0006c0007t0002g0014 a0006c0007t0011g0017 a0006c0007t0011g0021 a0006c0041t0002g0020 a0010c0013t0003g0103 a0010c0013t0003g0108 a0013c0021t0027g0064 a0029c0045t0002g0019 a0034c0038t0002g0016	34	108	0.3148	0	c.202 others(4): Show c.2028C>A	p.Cys others(4): Show p.Cys676*	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	13/24	2360/7652	2028/3867	676/1288		chr9	TogoVar
COG6_chr13_39650662_39757628	39679963	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(123): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0126 a0001c0001t0003g0189 a0001c0001t0003g0203 a0001c0001t0004g0091 a0001c0001t0004g0102 a0001c0001t0004g0104 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0209 a0001c0001t0012g0183 a0001c0001t0013g0133 a0001c0001t0014g0169 a0001c0001t0015g0202 a0002c0002t0005g0217 a0002c0002t0005g0218 a0002c0002t0005g0219 a0002c0002t0005g0220 a0002c0002t0006g0348 a0002c0002t0007g0332 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0177	134	370	0.3622	1	c.624 others(6): Show c.624-3dupT		COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	6/18				INFO_REALIGN_3_PRIME	chr13	TogoVar
COL18A1_chr21_45400165_45518720	45493559	CCCAGAAA others(49): Show CCCAGAAAGGAGCCAAGGTGAGGGCCGGGCAGCCTCCTTCCGGCAGGCGT GGGGGCT	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG04115.hp1 HG04115.hp1	a0021 a0021	a0021c0086 a0021c0086	a0021c0086t0002 a0021c0086t0002	a0021c0086t0002g0176 a0021c0086t0002g0176	1	292	0.0034	-56	c.233 others(68): Show c.2339_2352+42delAGAAAGGAGCCAAGGTGAGGGCCGGGCAGCCTC CTTCCGGCAGGCGTGGGGGCTCC	p.Gln others(5): Show p.Gln780fs	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	26/42	2405/5408	2339/4020	780/1339	INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46125455	A A	AC AC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013 a0001c0014 a0001c0019 a0001c0025 a0001c0031 a0002c0003 a0003c0004 a0003c0007 a0003c0017 a0003c0041 a0007c0042	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(17): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0005t0001 a0001c0013t0002 a0001c0014t0002 a0001c0019t0002 a0001c0025t0002 a0001c0031t0002 a0002c0003t0003 a0003c0004t0001 a0003c0004t0002 a0003c0007t0002 a0003c0017t0002 a0003c0041t0002 a0007c0042t0002	a0001c0001t0001g0035 a0001c0001t0001g0114 a0001c0001t0001g0155 others(80): Show a0001c0001t0001g0035 a0001c0001t0001g0114 a0001c0001t0001g0155 a0001c0001t0001g0304 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0255 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0270 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0289 a0001c0002t0002g0293 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0311 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0322 a0001c0002t0002g0324 a0001c0002t0002g0326 a0001c0002t0002g0327 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0005g0292 a0001c0002t0009g0020 a0001c0002t0009g0256 a0001c0002t0009g0262 a0001c0002t0009g0265 a0001c0002t0009g0334 a0001c0002t0009g0338 a0001c0002t0010g0123 a0001c0002t0010g0294 a0001c0002t0010g0295 a0001c0002t0010g0325 a0001c0002t0012g0288 a0001c0002t0013g0291 a0001c0005t0001g0158 a0001c0013t0002g0001 a0001c0013t0002g0275 a0001c0014t0002g0321 a0001c0014t0002g0323 a0001c0019t0002g0017 a0001c0025t0002g0282 a0001c0031t0002g0299 a0002c0003t0003g0231 a0003c0004t0001g0312 a0003c0004t0002g0044 a0003c0004t0002g0260 a0003c0004t0002g0314 a0003c0004t0002g0328 a0003c0007t0002g0022 a0003c0017t0002g0310 a0003c0017t0002g0313 a0003c0041t0002g0261 a0007c0042t0002g0287	100	372	0.2688	1	c.181 others(7): Show c.1817-3dupC		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	24/27				INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46125455	A A	AC AC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp1 HG00544.hp2 others(94): Show HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0010	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0024 a0001c0033 a0001c0042 a0001c0043 a0001c0050 a0002c0003 a0003c0010 a0003c0016 a0003c0063 a0005c0017 a0005c0065 a0010c0066	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(21): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0004t0001 a0001c0006t0001 a0001c0009t0001 a0001c0024t0002 a0001c0033t0002 a0001c0042t0002 a0001c0043t0002 a0001c0050t0002 a0002c0003t0001 a0003c0010t0001 a0003c0010t0002 a0003c0016t0002 a0003c0063t0001 a0005c0017t0002 a0005c0065t0002 a0010c0066t0002	a0001c0001t0001g0036 a0001c0001t0001g0114 a0001c0002t0001g0322 others(80): Show a0001c0001t0001g0036 a0001c0001t0001g0114 a0001c0002t0001g0322 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0123 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0267 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0313 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0329 a0001c0002t0008g0017 a0001c0002t0009g0330 a0001c0002t0012g0018 a0001c0002t0013g0314 a0001c0002t0014g0328 a0001c0004t0001g0157 a0001c0006t0001g0303 a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0259 a0001c0009t0001g0262 a0001c0009t0001g0331 a0001c0009t0001g0335 a0001c0024t0002g0318 a0001c0024t0002g0320 a0001c0033t0002g0018 a0001c0042t0002g0295 a0001c0043t0002g0285 a0001c0050t0002g0298 a0002c0003t0001g0227 a0003c0010t0001g0310 a0003c0010t0002g0325 a0003c0016t0002g0023 a0003c0063t0001g0046 a0005c0017t0002g0257 a0005c0017t0002g0258 a0005c0017t0002g0312 a0005c0065t0002g0311 a0010c0066t0002g0283	97	364	0.2665	1	c.181 others(7): Show c.1817-3dupC		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	24/27				INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE1_chr20_35621044_35669900	35627312	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00597.hp2 HG00642.hp1 others(43): Show HG00408.hp1 HG00597.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01433.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02717.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03490.hp2 HG04115.hp1 HG04228.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18972.hp1 NA18979.hp1 NA18988.hp2 NA19011.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19077.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0001 a0002c0002t0001 a0002c0011t0001	a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0079 others(41): Show a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0011t0001g0078	46	272	0.1691	1	c.120 others(5): Show c.1203dupT	p.Ala others(5): Show p.Ala402fs	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	14/16	1344/1952	1203/1614	401/537		chr20	TogoVar
CYLC2_chr9_102990333_103023488	103016962	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(409): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0005 a0002c0002 others(12): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0007c0008 a0008c0010 a0009c0011 a0010c0012 a0011c0013 a0012c0014 a0013c0015 a0014c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0005t0042 a0002c0002t0010 a0002c0002t0015 a0002c0002t0017 a0002c0002t0022 a0002c0002t0031 a0003c0003t0034 a0003c0003t0045 a0003c0003t0046 a0004c0004t0009 a0005c0006t0041 a0006c0007t0061 a0006c0007t0062 a0007c0008t0012 a0007c0008t0023 a0008c0010t0012 a0009c0011t0023 a0010c0012t0060 a0011c0013t0001 a0012c0014t0033 a0013c0015t0001 a0014c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(317): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0082 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0213 a0001c0001t0003g0219 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0235 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0011 a0001c0001t0004g0019 a0001c0001t0004g0024 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0059 a0001c0001t0004g0116 a0001c0001t0004g0167 a0001c0001t0004g0206 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0236 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0005g0001 a0001c0001t0005g0003 a0001c0001t0005g0011 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0037 a0001c0001t0005g0054 a0001c0001t0005g0171 a0001c0001t0005g0210 a0001c0001t0005g0215 a0001c0001t0005g0229 a0001c0001t0005g0238 a0001c0001t0006g0002 a0001c0001t0006g0013 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0018 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0139 a0001c0001t0006g0148 a0001c0001t0006g0157 a0001c0001t0006g0162 a0001c0001t0006g0183 a0001c0001t0006g0190 a0001c0001t0006g0192 a0001c0001t0007g0002 a0001c0001t0007g0008 a0001c0001t0007g0015 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0040 a0001c0001t0007g0043 a0001c0001t0007g0071 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0103 a0001c0001t0007g0120 a0001c0001t0007g0158 a0001c0001t0007g0204 a0001c0001t0007g0209 a0001c0001t0008g0001 a0001c0001t0008g0023 a0001c0001t0008g0038 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0214 a0001c0001t0008g0223 a0001c0001t0008g0228 a0001c0001t0008g0232 a0001c0001t0008g0239 a0001c0001t0008g0240 a0001c0001t0009g0001 a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0001t0009g0055 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0207 a0001c0001t0009g0216 a0001c0001t0009g0222 a0001c0001t0011g0007 a0001c0001t0011g0075 a0001c0001t0011g0180 a0001c0001t0011g0198 a0001c0001t0011g0199 a0001c0001t0011g0233 a0001c0001t0011g0234 a0001c0001t0012g0001 a0001c0001t0012g0019 a0001c0001t0012g0023 a0001c0001t0012g0036 a0001c0001t0012g0051 a0001c0001t0012g0053 a0001c0001t0013g0009 a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0013g0090 a0001c0001t0013g0092 a0001c0001t0013g0093 a0001c0001t0013g0095 a0001c0001t0014g0046 a0001c0001t0014g0074 a0001c0001t0014g0080 a0001c0001t0014g0176 a0001c0001t0014g0179 a0001c0001t0014g0185 a0001c0001t0014g0189 a0001c0001t0014g0237 a0001c0001t0016g0002 a0001c0001t0016g0004 a0001c0001t0016g0008 a0001c0001t0016g0030 a0001c0001t0016g0172 a0001c0001t0016g0184 a0001c0001t0016g0191 a0001c0001t0019g0081 a0001c0001t0020g0004 a0001c0001t0020g0045 a0001c0001t0020g0047 a0001c0001t0020g0048 a0001c0001t0020g0174 a0001c0001t0020g0182 a0001c0001t0023g0220 a0001c0001t0023g0221 a0001c0001t0023g0230 a0001c0001t0024g0023 a0001c0001t0024g0054 a0001c0001t0024g0076 a0001c0001t0024g0208 a0001c0001t0024g0211 a0001c0001t0025g0006 a0001c0001t0025g0135 a0001c0001t0025g0137 a0001c0001t0025g0145 a0001c0001t0025g0151 a0001c0001t0026g0193 a0001c0001t0028g0005 a0001c0001t0028g0084 a0001c0001t0028g0089 a0001c0001t0028g0094 a0001c0001t0029g0005 a0001c0001t0029g0091 a0001c0001t0030g0006 a0001c0001t0030g0013 a0001c0001t0030g0150 a0001c0001t0030g0169 a0001c0001t0033g0060 a0001c0001t0035g0098 a0001c0001t0035g0099 a0001c0001t0037g0085 a0001c0001t0037g0096 a0001c0001t0038g0005 a0001c0001t0038g0009 a0001c0001t0043g0248 a0001c0001t0043g0250 a0001c0001t0044g0003 a0001c0001t0047g0241 a0001c0001t0048g0056 a0001c0001t0049g0056 a0001c0001t0050g0001 a0001c0001t0051g0212 a0001c0001t0052g0097 a0001c0001t0053g0086 a0001c0001t0054g0072 a0001c0001t0056g0049 a0001c0001t0057g0166 a0001c0001t0058g0058 a0001c0001t0059g0058 a0001c0001t0063g0246 a0001c0001t0064g0083 a0001c0001t0065g0251 a0001c0001t0066g0249 a0001c0001t0067g0247 a0001c0005t0042g0194 a0001c0005t0042g0195 a0002c0002t0010g0064 a0002c0002t0010g0065 a0002c0002t0010g0066 a0002c0002t0010g0276 a0002c0002t0010g0278 a0002c0002t0010g0280 a0002c0002t0010g0281 a0002c0002t0010g0290 a0002c0002t0010g0292 a0002c0002t0010g0293 a0002c0002t0010g0294 a0002c0002t0015g0027 a0002c0002t0015g0277 a0002c0002t0015g0285 a0002c0002t0015g0286 a0002c0002t0015g0287 a0002c0002t0015g0289 a0002c0002t0015g0296 a0002c0002t0017g0033 a0002c0002t0017g0034 a0002c0002t0017g0035 a0002c0002t0017g0114 a0002c0002t0022g0065 a0002c0002t0022g0282 a0002c0002t0022g0283 a0002c0002t0022g0284 a0002c0002t0022g0295 a0002c0002t0031g0027 a0002c0002t0031g0288 a0002c0002t0031g0291 a0003c0003t0034g0202 a0003c0003t0034g0203 a0003c0003t0045g0200 a0003c0003t0046g0201 a0004c0004t0009g0063 a0004c0004t0009g0279 a0005c0006t0041g0031 a0006c0007t0061g0197 a0006c0007t0062g0196 a0007c0008t0012g0001 a0007c0008t0023g0224 a0008c0010t0012g0001 a0009c0011t0023g0205 a0010c0012t0060g0243 a0011c0013t0001g0002 a0012c0014t0033g0245 a0013c0015t0001g0102 a0014c0009t0001g0124	412	448	0.9196	0	c.89 others(6): Show c.890+1G>A		CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	7/7					chr9	TogoVar
CYP21A2_chr6_32033415_32046644	32040421	C C	T T	stop_gained stop_gained	HIGH	HG00544.hp1 HG01070.hp1 HG01071.hp1 others(3): Show HG00544.hp1 HG01070.hp1 HG01071.hp1 HG02717.hp2 HG02738.hp1 HG04115.hp1	a0007 a0028 a0007 a0028	a0007c0017 a0007c0039 a0028c0042 a0007c0017 a0007c0039 a0028c0042	a0007c0017t0001 a0007c0039t0001 a0028c0042t0001 a0007c0017t0001 a0007c0039t0001 a0028c0042t0001	a0007c0017t0001g0025 a0007c0039t0001g0003 a0028c0042t0001g0056 a0007c0017t0001g0025 a0007c0039t0001g0003 a0028c0042t0001g0056	6	459	0.0131	0	c.955 others(3): Show c.955C>T	p.Gln others(4): Show p.Gln319*	CYP21A2	ENSG00000231852.9	transcript	ENST00000644719.2	protein_coding	8/10	963/2006	955/1488	319/495		chr6	TogoVar
DAZ2_chrY_23214533_23296356	23239362	CTGGTCAT others(11928): Show CTGGTCATTTTAAATTAGTGAAGTGTACCTAAAATTTAAGGAAACACGTA GAAGTAGTGTAGAATGAAGACCTCTGTCTTATTTAGAAGTAATGAAGTAG TATTTTGAGAGGAATATACTTGGCAATAACTTTTCTGTAGAAGAGATTTC TGAGATGTGGTGTTCTCTTCTTTATTTCTGGATGCAGTTTTCATCTTTAC TGTGAAATAGCTGAATGAAACATCCAAACTGACTTTCATGAATTTTCTTA GGGAGATAGAGTGAAATAAATTTATGCTGCACTTTTCAGAGCACAGAATC CCAATTACATTTTCATTTTAGCTGGCTGTTTGAAGATAGTAATGCTCTGG ATCTCTTTTCATAGATACAAGTATATCTATGACCCATAATTACATCTATG GTAAGAAACTGAAAGAGGTAGTATCTTTGAGGTTTCCACCTTGCCAACTC CCGAAAATTTGGAGAAAGGTGAAGTTTCCAATATAAAAGTAACAAGAATG TCATGGACTAGAAACATAAAGTACTTAAGTTTTCCTTTCTGTTACTTTTA TTATAATGAAAAAGGAGACAGCCGGATAAGTACTTCAATGTTGTATTTCT CATGTGTTTTTGAAAATGTGTAGGAATACATATAATAGTTTCGGTGTCCT TTTTTTTTCTTTCTTTTTCTTTCTTTTTTTTTTTTAAGATGCCACCATAA GGTCCTGTTGGGGAGCAAAGGATTATGTTGTCCTTGACGTTAAGTGAATT AGCCAAACATAGATTTCCTGTTCATTCTTGATTTTTTTCCATGTCATATA TGCCTATAAATATTTTTAAGTGATTCTTTATATTAATTTTTTTGTTGTTG TTACTTTCTTGTTAACCCGATTATAAACTCCCATGGGAGCAAGAGTGCCT TTTTTGCCCTCAGGTTTTTATGTGGTTAAGCAATGGCAGGTCCATATAAT GACAGACTATATAATCAAAGAAAGGTAGTGTTCATGTGACTTTACAATTA GCATGTATCTGCATAGAATCTGCCTCTGGCTTTACCAGCAATAGAATATT TATAGAAGAGAAACAGAAATGCTTTGCTGTTAATGACGCTTAAATGAGAA TAGGAGTAAACGAGAGTATTACCGCCAAATCACCGGAGCTGCTTTCCCCC TTATAACCAGTTCCTAAAGTGAATGAAAGCAGCTCCCCTTATGTGTCTGC CTACTTTATTCTTTGGTAAGTTTAGCAGTTCATCTAGCTATTCTTTATTT GAAATGATTTCCGGATGCCTCCTCATATAAATTGCTGACTTCTGGAAATA TTCTTCTTCTGGAATGGGTAGATTTCTGATGTGGTTTAGTATATATATAA ACCCCGTGAGCTTCTGGCGTCTAATTTCTCTGATTCTGGTTACACTGATA TTTAAAGTAGGGTTTGACATACTCCATCACTTAATGTTGATAACTAACCT TTATATTCTTCTTAGTTCGTTTTATTTATGTGTTAGCTTAAAAGACATTT TCTTTGATGGAAAATGAAGTAACAAAATAATAGTGAAATAGTTCTGCGGT TGTCTCTAATTTCGTGATATTTTCCATGTACTTGAAACATGTATGGTATA CCTCTTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAGCCTTACTTG TTTCTGTCATTTACTGTGAGCGATTACTGAATCTGGGTGTATTCATGTAT GCTGCTACCTGTATGTTTTCAGATAATAAAAATTTTTTGAAACATATAAG ACATTATACTTTCTCTTGTCCAGTATTGGATTATAGACTGCACTTAGTTT TTCGTAATGAAGTACAGACAAAGCCATAACATCTGTCAAACTATATATTG TCCTATAATATTGTCTGATACAAAACAGTCTAGAAATATTCTGACAGGGA AATAGCAAATGTATTAATTTAACTTACCTTGCAATCTCTCTTAATGGAGC CTTACCACCAGTGTAAGAAATAACTTCTGGGTGTGAATAAGTACACAGTA TAAGGTAAACTTTGGTGAAATAGTCAATTCTTTTGTCATTAGTTCCCCCT TCACTCCCAAAGTGTAGCACTTGTCATAGAATCTTTCTTTCTTCATAAAG TCAGTCATTCATTTAGAATTCTGCATTATTGTATGTAGAAAAACAATATT TTACCTATTTTTGTTATATTCAGAATTATATTTCTTTCTAATTTTAAAAA AATGGTTTACCGTATTCATTTTTTTCTGGAACCTTTCTTTTCAGGCATTT CCTGCTTATCCAAATTCACCATTTCAAGTCGCCACTGGATATCAGTTCCC TGTATACAATTATCAGGTAATGTCAGAGGGAGTAAAATGATTTGCTTTTA GGTATTATTGAGGCCTTTAACTTGTTCATACAAATTTCCTGAATAGTTGC TCATTTTAAACTAGTGAATTGTACCTAAAATTTAAGGAAACACTTAGTGT AGAATGAAGACCTCTGTGTTATTTAGAATAATGAGGTAGTATTTTGACAG GAATATACTTGGCAATAACTTTTCTGTAGAACAGATTTCTGAGATTTGGT GTTCTCTTCTTCATTTCTGGATGTAGTTTTCATCTTTACTGTCAAATAGC TAAATGAAACGTCCAAAGTGTCTTTCATGAATTTTCTTAGGGAGATAGAC TGAAATAAAATTATGCTGCACTTTTCAGAGCACAGAATCCCAATTACATT TTCATTTTAGCTGGCTGTTTGACGATAGTAATGCTCTGGATCTCTTTTCA TAGATACAAGTGTATCTGTGACCCATAATTATATCTACGGTAATAAACTG AAAGAGCTAGTATCTTTGAGGTTTCCACATTGCGAAATCCCGAAAATGTG GAGAGAGCTGAAGTTTCCAATGTAAAAGTAACAAGAATGTCATGGACTAG AAACATAAAGTATTTGAGTTTTCCTTTCTGTTACTTTTATTACAATAAAA AAGGAGACAGCAGGATAAGTACTTTAATATTGTGTTTCTCATGTGTTTTT GAAAATGTGTAGTAATACTTCAATAGTTTTGGTTTCCTTTTATTTATTAA TTGATTTTTTAAGATTCCACCTTAGGGGCCTGTTGGGTAGCAAAGGGATT ATGTTGTCCTTGACATTAAGGGAATTAGCCAAACATAGACTTCCTGTTCA TTCTTGATTTTTTTCCATGTCATATATGCCTACAAATATTTTTAAGTGAC TTTTTATGTTAATGTTTTTTTTGTTGTTGTTTCCTTCTTGTTAACCCGAT TATAAACTCCCATGGCAGCAACAGTGCCTTTTTTGTCCTCAGGTTTTTAT GTGCTTAAGCAATGGCAGGTCTACATAATGATAGACTATATAATCAAAGA AAGGGAGTATTCACGTGACTTTAGAATTAGCATGTGTCTGCATAGAATAT GCCTCTGGCTTTACCAGCAGTAGAAAATTTATAGAAGAGAAACAGAAATG CTTTGCTGTTAATGACGCCTAAATAAGAAGAGGAGTAAAGGAGAGTATTA CCTCCAAATCACCGGAGCTGCTTTCCCCCTTATAAGCAGTTCCTAAAGTG AATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTTATTCTTCGGTAAGT TTAGCAGTTCATCTAGCTATCCTTTATTTGAAATGATTTCCAGATGCCTC CTCATATAAATTGCTGACTTCTGGATATTTCCTGGTTCTGGAATGGGTAG ATTTCTGATGTGGTTTAGTATATATATGTAAACCCCGTGAGCTTCTGGCA TCTAATTTCTCTGATCCTGGTTACATTGATATTTAAAGTAGGGTTTGACA TACTCTGTCACCTACTGTTGATAAATAACGTTTATATTCTTCTTAGTTCA TTTTATTGACGTGTTAGCTTTAAAGACATTTTCTTTGACGGAAAATGAAG TAACAAAATAATAGTGAAATAGTTATGCAGTGTCTCTAATTTGTTGATAT TTTCCATGTACTTGAAACTTGTATGGTATACCTCTTCTTTTTCCTTCTCT GAACAATGGCTAGAAAAAAAGTCCTACTTTTTTCTGTCATTTACTGTGAG GCATCACTGATTCTGGGTGTATTCATGTATGCTGCTACCTGTATGTTTTC AAACAATAAGAATTTATTGAAACATGTAAGACATTATACTTTCTCTTCTC CAGTATTGGATCATAGACTGCACTTAGTTTTTCGTAATGAAGTACAGACA AAGCCATAACATCTGTCGAACTACATATTACCCTATAATATTGTCTGATA CAAAACAGTCTAGAAATATTCTTACAGAGAAATTGCAAATGTATTAATTT AACTTACCTTGCAATCTCTCTTAATGGAGCCTTACCACCAGTGTAAGAAA TAACGTCTGGGTGTGAATAAGTACACAGTATAAGGTAAACTTTGGTGAAG TAGTCAATTTTGTCATTTGTTCCCCCTTCACACCCATAGTGTAGCACTTG ACCTAGAATCTTTCTTTCTTCATAAAGTCAGTCATTCATTTGGAATTCTG CATTGTTGTACGTAGAAAAAGGATATTTTACCTTTTGTAATATTTTTGTT ATATTGGGAATTATATTTCTTTGTAATTTTAAAAAGTGGTTTACCATATT CATTTTTTTCTGCAACCTTTCTTTTCAGCCATTTCCTGCTTATCCAAGTT CACCATTTCAGGTCACTGCTGGATATCAGTTGCCTGTATATAATTATCAG GTAATGTAAGAAGGAGTAAAATGATTTACTTTCAGGTATTATTGAGGCAT TCAACTTGTTTATACAAATTTCCTGAATAGCTGGTCATTTTAAATTAGTG AAGTGTACCTAAAATTTAAGGAAACACGTAGAAGTAGTGTAGAATGAAGA CCTCTGTCTTATTTAGAAGTAATGAAGTAGTATTTTGAGAGGAATATACT TGGCAATAACTTTTCTGTAGAAGAGATTTCTGAGATGTGGTGTTCTCTTC TTTATTTCTGGATGCAGTTTTCATCTTTACTGTGAAATAGCTGAATGAAA CATCCAAACTGACTTTCATGAATTTTCTTAGGGAGATAGAGTGAAATAAA TTTATGCTGCACTTTTCAGAGCACAGAATCCCAATTACATTTTCATTTTA GCTGGCTGTTTGAAGATAGTAATGCTCTGGATCTCTTTTCATAGATACAA GTATATCTATGACCCATAATTACATCTATGGTAAGAAACTGAAAGAGGTA GTATCTTTGAGGTTTCCACCTTGCCAACTCCCGAAAATTTGGAGAAAGGT GAAGTTTCCAATATAAAAGTAACAAGAATGTCATGGACTAGAAACATAAA GTACTTAAGTTTTCCTTTCTGTTACTTTTATTATAATGAAAAAGGAGACA GCCGGATAAGTACTTCAATGTTGTATTTCTCATGTGTTTTTGAAAATGTG TAGGAATACATATAATAGTTTCGGTGTCCTTTTTTTTTCTTTCTTTTTCT TTCTTTTTTTTTTTTAAGATGCCACCATAAGGTCCTGTTGGGGAGCAAAG GATTATGTTGTCCTTGACGTTAAGTGAATTAGCCAAACATAGATTTCCTG TTCATTCTTGATTTTTTTCCATGTCATATATGCCTATAAATATTTTTAAG TGATTCTTTATATTAATTTTTTTGTTGTTGTTACTTTCTTGTTAACCCGA TTATAAACTCCCATGGGAGCAAGAGTGCCTTTTTTGCCCTCAGGTTTTTA TGTGGTTAAGCAATGGCAGGTCCATATAATGACAGACTATATAATCAAAG AAAGGTAGTGTTCATGTGACTTTACAATTAGCATGTATCTGCATAGAATC TGCCTCTGGCTTTACCAGCAATAGAATATTTATAGAAGAGAAACAGAAAT GCTTTGCTGTTAATGACGCTTAAATGAGAATAGGAGTAAACGAGAGTATT ACCGCCAAATCACCGGAGCTGCTTTCCCCCTTATAACCAGTTCCTAAAGT GAATGAAAGCAGCTCCCCTTATGTGTCTGCCTACTTTATTCTTTGGTAAG TTTAGCAGTTCATCTAGCTATTCTTTATTTGAAATGATTTCCGGATGCCT CCTCATATAAATTGCTGACTTCTGGAAATATTCTTCTTCTGGAATGGGTA GATTTCTGATGTGGTTTAGTATATATATAAACCCCGTGAGCTTCTGGCGT CTAATTTCTCTGATTCTGGTTACACTGATATTTAAAGTAGGGTTTGACAT ACTCCATCACTTAATGTTGATAACTAACCTTTATATTCTTCTTAGTTCGT TTTATTTATGTGTTAGCTTAAAAGACATTTTCTTTGATGGAAAATGAAGT AACAAAATAATAGTGAAATAGTTCTGCGGTTGTCTCTAATTTCGTGATAT TTTCCATGTACTTGAAACATGTATGGTATACCTCTTCTTTTTCCTTCTCT GAACAATGGCTAGAAAAAAAGCCTTACTTGTTTCTGTCATTTACTGTGAG CGATTACTGAATCTGGGTGTATTCATGTATGCTGCTACCTGTATGTTTTC AGATAATAAAAATTTTTTGAAACATATAAGACATTATACTTTCTCTTGTC CAGTATTGGATTATAGACTGCACTTAGTTTTTCGTAATGAAGTACAGACA AAGCCATAACATCTGTCAAACTATATATTGTCCTATAATATTGTCTGATA CAAAACAGTCTAGAAATATTCTGACAGGGAAATAGCAAATGTATTAATTT AACTTACCTTGCAATCTCTCTTAATGGAGCCTTACCACCAGTGTAAGAAA TAACTTCTGGGTGTGAATAAGTACACAGTATAAGGTAAACTTTGGTGAAA TAGTCAATTCTTTTGTCATTAGTTCCCCCTTCACTCCCAAAGTGTAGCAC TTGTCATAGAATCTTTCTTTCTTCATAAAGTCAGTCATTCATTTAGAATT CTGCATTATTGTATGTAGAAAAACAATATTTTACCTATTTTTGTTATATT CAGAATTATATTTCTTTCTAATTTTAAAAAAATGGTTTACCGTATTCATT TTTTTCTGGAACCTTTCTTTTCAGGCATTTCCTGCTTATCCAAATTCACC ATTTCAAGTCGCCACTGGATATCAGTTCCCTGTATACAATTATCAGGTAA TGTCAGAGGGAGTAAAATGATTTGCTTTTAGGTATTATTGAGGCCTTTAA CTTGTTCATACAAATTTCCTGAATAGTTGCTCATTTTAAACTAGTGAATT GTACCTAAAATTTAAGGAAACACTTAGTGTAGAATGAAGACCTCTGTGTT ATTTAGAATAATGAGGTAGTATTTTGACAGGAATATACTTGGCAATAACT TTTCTGTAGAACAGATTTCTGAGATTTGGTGTTCTCTTCTTCATTTCTGG ATGTAGTTTTCATCTTTACTGTCAAATAGCTAAATGAAACGTCCAAAGTG TCTTTCATGAATTTTCTTAGGGAGATAGACTGAAATAAAATTATGCTGCA CTTTTCAGAGCACAGAATCCCAATTACATTTTCATTTTAGCTGGCTGTTT GACGATAGTAATGCTCTGGATCTCTTTTCATAGATACAAGTGTATCTGTG ACCCATAATTATATCTACGGTAATAAACTGAAAGAGCTAGTATCTTTGAG GTTTCCACATTGCGAAATCCCGAAAATGTGGAGAGAGCTGAAGTTTCCAA TGTAAAAGTAACAAGAATGTCATGGACTAGAAACATAAAGTATTTGAGTT TTCCTTTCTGTTACTTTTATTACAATAAAAAAGGAGACAGCAGGATAAGT ACTTTAATATTGTGTTTCTCATGTGTTTTTGAAAATGTGTAGTAATACTT CAATAGTTTTGGTTTCCTTTTATTTATTAATTGATTTTTTAAGATTCCAC CTTAGGGGCCTGTTGGGTAGCAAAGGGATTATGTTGTCCTTGACATTAAG GGAATTAGCCAAACATAGACTTCCTGTTCATTCTTGATTTTTTTCCATGT CATATATGCCTACAAATATTTTTAAGTGACTTTTTATGTTAATGTTTTTT TTGTTGTTGTTTCCTTCTTGTTAACCCGATTATAAACTCCCATGGCAGCA ACAGTGCCTTTTTTGTCCTCAGGTTTTTATGTGCTTAAGCAATGGCAGGT CTACATAATGATAGACTATATAATCAAAGAAAGGGAGTATTCACGTGACT TTAGAATTAGCATGTGTCTGCACAGAATATGCCTCTGGCTTTACCAGCAG TAGAAAATTTATAGAAGAGAAACAGAAATGCTTTGCTGTTAATGACGCCT AAATAAGAATAGGAGTAAAGGAGAGTATTACCTCCAACTCACCGGAGCTG CTTTCCCCCTTATAAGCAGTTCCTAAAGTGAATGAAAGCAGCTCTCCTTA TGTGTCTGCCTACTTTATTCTTCGGTAAGTTTAGCAGTTTATCTAGCTAT CCTTTATTTGAAATGATTGCCACATGCCTCCTCATATAAATGGCTGACTT CTGGATATATTCTGGTTCTGGAATGGGCAGATTTCTGACGTGGTTTAGTA TATATATATAAACCCGGTGAGTTTCTGGCATGTAATTTCTCTGATCGTGG TTACATTGATATTTAAAGTAGGGTTTGACATAGTGTGTCACTTACTGTTG ATAAATATCGTTTATTTTCTTCTTAGTTCATTTCATTGATGTGTTAGCTT AAAAGACATTTTCTTTGACAGAAAATGAAGTAATGAAATAATAGTGAAAT CGTTCTGCTGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACAT GTATGGTATACCTCTTCTTTTTCCTTCTCTGAACCATGGCTAGAAAAAAA GCCCTACTTGTTTCTCTCGTTTACTGTGAGGCATTAGTGATTCTGGGTGT ATTCATGTATGCTGCTAACTGTATGTTTTCAAACAATAAGAATTTGTTGA AACATGTCAGACATTATACTTTTTATTCTCCAGTATTGGAATATAGACTG CAATTAGTTTTTTGGAATGAAATACAGACAAAGCCATAACATCTATAGAA CTACATATTACCCTACAATATTGTCTGATACAAAACAGTCTGGAAATATT CTTACAGCGAAATTGCAAATGTATTGATTTACCTTACATTGCAATCTGTC TTAGTGGAACCTTATCACCAGTGTAAGACATAATTTCTGGGTGTGAATAA GTACACAGTATAAGGTAAATTTTGGTGAAGTAGTCAGTTCTTTGTCATTT GTTCCCCCTTCACACCCAAAGTGTAGCACTTGACATAGAATCTTTCTTTC CTCATAAAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAAGG ATATTTTCCGTTTTGTAATATTTTTCTTATATTGGGAATTATATTTCTTT CTAATTTTAAAATGTGGTTTACCATATTCATTTTTTCTGCAACCTTTTCA GGCATTTCCTGCTTATCCAAATTCACCAGTTCAGGTCACCACTGGATATC AGTTGCCTGTATACAATTATCAGGTAATGTAAGAGGTAGTAAAATGGTTT GCTTTCAGGTATTATTGAGGCCTTTAACTTGTTTATAGAAATTTCCTGAA TAGTTGGTCATTTTTAACTAGTGAAGTGTCCCTAAAATTTAAGGAAAGAC TTAGTGTAGAATGAAGACCTCTGTCTTATTTAGAAGTAATGAAGTAATAT TTTTACAGGAATATCCTTGGCAATAACATTTGTGTAGAAGAGATTTCTGA GATTTGGTGTCCCCTTCTTCATTTGTGGATATAGTTTTCATCTTTGCTGT CAAATAGCTGAATGAAACATCCAAACTGACTTTCATGAATTTTTTTAGGG AGATAGAGTGAAATAAAATTATGATCCACTTTTCAGAGCACAGAATTCCA ATTATATTTTCATTTTAGCTGGCTGTTTGACGGTAGTCATTCTCAGGATC TCTTCTCATAGATACAAGTATATCTATGACCCATAACTATATCTATGGTA ATAAACTGAAAGAGCTAGTATTTTTGAGGTTTCCACATTGCCAACTCCCA AAAATTTGGAGAAAGGTGAAGATTCAAATTTAAAGTAACAAGAATGTCAT GGACAAGAAACATAAAGTACTTAAGTTTTCCTTTCTGTTACTTTTATTAT AATAAAAAAGGAGACAGCGGAATAAGTACTTCAATACTGTGTTTCTCATG TGTGTTTGAAAATATGTAGGAATAGTTTAATAGTTTTGGTTTCCTTTTTT TTTTTTTTTTTTTTAAAGATGCCACCTTAGGGGCCTGTTGGGGAGCAAAG GGATTATGTTGTCCTTGACGTTAAGGGAATTAGCCAAACATAGACTTCCT GTTCATTCTTGATTTTTTTCCATGTCCTATATGCCTATAAATATTTTTAA GTGATTCTTTATATTAATTTTTTTGTCGTTGTTACTTTCTTGTTAACCCG ATTATGAACTCCCATGGGAGCAAGAGTGCCTTTTTTGCCCTCAGGTTTTT ATGTGCCTAAGCAATGGCAGGTCCACATAATGATAGACTATATAATCACA GAAAAGTAGTATTCACTTGACTTTAGAATTATCACGTATCTGCCAATAAT CTGCCTCTGGCTTTACCAGCAATAGAAAATTTATAGAAGAGAAACAGAAT TGCTTTGCTGTTAATGACGCTTAAATAAGAACAGGAGTGAACGAGAGTAT TACCTCCAAATCACCGGAGCTGCTTTCCCCCTTATAAGCAGTTCCTAAAG TGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTTATTCTTCGGTAA GTTTAGCAGTTCATCTAGCTATCCTTTATTTGAAATGATTTCCAGATGCC TCCTCATATAAATTGCTGACTTCTGGATATTTCCTGGTTCTGGAATGGGT AGATTTCTGATGTGGTTTAGTATATATATGTAAACCCCGTGAGCTTCTGG CATCTAATTTCTCTGATCCTGGTTACATTGATATTTAAAGTAGGGTTTGA CATACTCTGTCACCTACTGTTGATAAATAACGTTTATATTCTTCTTAGTT CATTTTATTGACGTGTTAGCTTTAAAGACATTTTCTTTGACGGAAAATGA AGTAACAAAATAATAGTGAAATAGTTATGCAGTGTCTCTAATTTGTTGAT ATTTTCCATGTACTTGAAACTTGTATGGTATACCTCTTCTTTTTCCTTCT CTGAACAATGGCTAGAAAAAAAGTCCTACTTTTTTCTGTCATTTACTGTG AGGCATCACTGATTCTGGGTGTATTCATGTATGCTGCTACCTGTATGTTT TCAAACAATAAGAATTTATTGAAACATGTAAGACATTATACTTTCTCTTC TCCAGTATTGGATCATAGACTGCACTTAGTTTTTCGTAATGAAGTACAGA CAAAGCCATAACATCTGTCGAACTACATATTACCCTATAATATTGTCTGA TACAAAACAGTCTAGAAATATTCTTACAGAGAAATTGCAAATGTATTAAT TTAACTTACCTTGCAATCTCTCTTAATGGAGCCTTACCACCAGTGTAAGA AATAACGTCTGGGTGTGAATAAGTACACAGTATAAGGTAAACTTTGGTGA AGTAGTCAATTCTTTTGTCATTTGTTCCCCCTTCACACCCATAGTGTAGC ACTTGACCTAGAATCTTTCTTTCTTCATAAAGTCAGTCATTCATTTGGAA TTCTGCATTGTTGTACGTAGAAAAAGGATATTTTACCTTTTGTAATATTT TTGTTATATTGGGAATTATATTTCTTTGTAATTTTAAAAAGTGGTTTACC ATATTCATTTTTTTCTGCAACCTTTCTTTTCAGCCATTTCCTGCTTATCC AAGATCACCATTTCAGGTCACTGCTGGATATCAGTTGCCTGTATATAATT ATCAGGTAATGTAAGAAGGAGTAAAATGATTTACTTTCAGGTATTACTGA GGCATTCAACTTGTTTATACAAATTTCCTGAATAGT	C C	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp1 HG00642.hp1 HG00673.hp1 others(21): Show HG00140.hp1 HG00642.hp1 HG00673.hp1 HG01106.hp1 HG01192.hp1 HG01256.hp2 HG01515.hp1 HG01928.hp1 HG02040.hp1 HG02056.hp1 HG02132.hp1 HG02647.hp2 HG03225.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA19043.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 others(2): Show a0001 a0005 a0008 a0011 a0012	a0001c0001 a0001c0007 a0005c0005 others(3): Show a0001c0001 a0001c0007 a0005c0005 a0008c0011 a0011c0013 a0012c0014	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0005c0005t0001 a0008c0011t0001 a0011c0013t0001 a0012c0014t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0002g0030 a0001c0007t0001g0033 a0005c0005t0001g0031 a0008c0011t0001g0049 a0011c0013t0001g0020 a0012c0014t0001g0003	24	54	0.4444	-11935	c.930 others(18): Show c.930+1077_1290+1076del		DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	13/28				INFO_REALIGN_3_PRIME	chrY	TogoVar
DCANP1_chr5_135439214_135452348	135446760	T T	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0012 others(3): Show a0001c0001 a0001c0003 a0001c0012 a0005c0006 a0006c0013 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0003t0001 a0001c0003t0011 a0001c0003t0023 a0001c0003t0034 a0001c0012t0007 a0005c0006t0001 a0006c0013t0003 a0007c0011t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(28): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 a0001c0001t0013g0000 a0001c0001t0015g0000 a0001c0001t0016g0000 a0001c0001t0017g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 a0001c0001t0026g0000 a0001c0001t0028g0000 a0001c0001t0029g0000 a0001c0001t0030g0000 a0001c0001t0031g0000 a0001c0001t0032g0000 a0001c0001t0033g0000 a0001c0003t0001g0000 a0001c0003t0011g0000 a0001c0003t0023g0000 a0001c0003t0034g0000 a0001c0012t0007g0000 a0005c0006t0001g0000 a0006c0013t0003g0000 a0007c0011t0001g0000	268	456	0.5877	0	c.349 others(3): Show c.349A>T	p.Arg others(4): Show p.Arg117*	DCANP1	ENSG00000251380.3	transcript	ENST00000503143.3	protein_coding	1/1	589/3135	349/735	117/244		chr5	TogoVar
DCLK2_chr4_150073445_150262438	150256193	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG01255.hp1 HG01255.hp2 others(3): Show HG00544.hp1 HG01255.hp1 HG01255.hp2 HG04115.hp1 HG04115.hp2 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 others(1): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0013	a0003c0004t0001g0049 a0003c0004t0001g0088 a0003c0004t0002g0010 others(3): Show a0003c0004t0001g0049 a0003c0004t0001g0088 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0003g0004 a0003c0004t0013g0038	6	116	0.0517	1	c.225 others(5): Show c.2250dupC	p.Ala others(5): Show p.Ala751fs	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	16/16	2834/4075	2251/2301	751/766	INFO_REALIGN_3_PRIME	chr4	TogoVar
DDX49_chr19_18914715_18933630	18928221	C C	T T	stop_gained stop_gained	HIGH	HG01884.hp2 HG01891.hp1 HG02109.hp2 others(3): Show HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02717.hp1 HG04115.hp1 NA18906.hp2	a0004 a0004	a0004c0007 a0004c0010 a0004c0007 a0004c0010	a0004c0007t0002 a0004c0010t0001 a0004c0010t0002 a0004c0007t0002 a0004c0010t0001 a0004c0010t0002	a0004c0007t0002g0042 a0004c0007t0002g0051 a0004c0007t0002g0109 others(2): Show a0004c0007t0002g0042 a0004c0007t0002g0051 a0004c0007t0002g0109 a0004c0010t0001g0001 a0004c0010t0002g0117	6	398	0.0151	0	c.135 others(4): Show c.1357C>T	p.Arg others(4): Show p.Arg453*	DDX49	ENSG00000105671.12	transcript	ENST00000247003.9	protein_coding	13/13	1384/1793	1357/1452	453/483		chr19	TogoVar
DEFB126_chr20_137590_150751	145514	GCAAA GCAAA	G G	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00642.hp2 HG00673.hp1 others(59): Show HG00323.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02818.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18906.hp2 NA18951.hp2 NA18953.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18981.hp2 NA18992.hp1 NA18994.hp1 NA19001.hp1 NA19006.hp2 NA19043.hp2 NA19058.hp1 NA19078.hp1 NA19081.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0009 a0002c0003 a0002c0006 a0002c0009	a0002c0003t0001 a0002c0006t0001 a0002c0009t0001 a0002c0003t0001 a0002c0006t0001 a0002c0009t0001	a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 others(5): Show a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0020 a0002c0006t0001g0005 a0002c0009t0001g0009	62	460	0.1348	-4	c.163 others(11): Show c.163_166delCAAA	p.Gln others(4): Show p.Gln55fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	202/434	163/336	55/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DEFB126_chr20_137590_150751	145669	ACC ACC	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(230): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0002 a0000 a0002	a0000c0002 a0000c0004 a0002c0003 others(2): Show a0000c0002 a0000c0004 a0002c0003 a0002c0006 a0002c0009	a0000c0002t0001 a0000c0004t0001 a0002c0003t0001 others(2): Show a0000c0002t0001 a0000c0004t0001 a0002c0003t0001 a0002c0006t0001 a0002c0009t0001	a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 others(16): Show a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 a0000c0002t0001g0004 a0000c0002t0001g0006 a0000c0002t0001g0008 a0000c0002t0001g0010 a0000c0002t0001g0013 a0000c0002t0001g0014 a0000c0004t0001g0005 a0000c0004t0001g0019 a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0020 a0002c0006t0001g0005 a0002c0009t0001g0009	233	460	0.5065	-2	c.317 others(9): Show c.317_318delCC	p.Pro others(5): Show p.Pro106fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	356/434	317/336	106/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01256.hp2 HG01258.hp2 HG01884.hp2 others(1): Show HG01256.hp2 HG01258.hp2 HG01884.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0103 a0001c0001t0001 a0001c0001t0016 a0001c0001t0103	a0001c0001t0001g0234 a0001c0001t0016g0002 a0001c0001t0016g0037 others(1): Show a0001c0001t0001g0234 a0001c0001t0016g0002 a0001c0001t0016g0037 a0001c0001t0103g0303	4	316	0.0127	30	c.623 others(41): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DHRS11_chr17_36586879_36605804	36600156	CCA CCA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA19001.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp1 NA19068.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0002c0003t0001g0001	111	385	0.2883	-2	c.742 others(13): Show c.742-3_742-2delCA		DHRS11	ENSG00000278535.5	transcript	ENST00000618403.5	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr17	TogoVar
DIDO1_chr20_62872743_62931505	62926430	ACCGCAGG ACCGCAGG	A A	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(63): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01952.hp2 HG02027.hp1 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18946.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19010.hp1 NA19056.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0024 a0025	a0001c0009 a0002c0002 a0003c0003 others(8): Show a0001c0009 a0002c0002 a0003c0003 a0003c0006 a0003c0019 a0003c0041 a0003c0042 a0003c0043 a0005c0005 a0024c0040 a0025c0039	a0001c0009t0001 a0002c0002t0001 a0003c0003t0001 others(8): Show a0001c0009t0001 a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 a0003c0019t0001 a0003c0041t0001 a0003c0042t0001 a0003c0043t0001 a0005c0005t0002 a0024c0040t0001 a0025c0039t0002	a0001c0009t0001g0024 a0002c0002t0001g0267 a0003c0003t0001g0021 others(55): Show a0001c0009t0001g0024 a0002c0002t0001g0267 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0235 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0243 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0251 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0268 a0003c0006t0001g0027 a0003c0006t0001g0028 a0003c0006t0001g0248 a0003c0006t0001g0249 a0003c0006t0001g0250 a0003c0006t0001g0252 a0003c0006t0001g0259 a0003c0019t0001g0236 a0003c0019t0001g0266 a0003c0041t0001g0242 a0003c0042t0001g0233 a0003c0043t0001g0234 a0005c0005t0002g0260 a0024c0040t0001g0244 a0025c0039t0002g0261	66	320	0.2063	-7	c.-20 others(20): Show c.-200+2_-200+8delCCTGCGG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	1/15					chr20	TogoVar
DMBT1_chr10_122555754_122648736	122601633	CTTAACCT others(12170): Show CTTAACCTCTGGGTGCAGCTATCTTCCATCATGACTGCATGCCCTGGTGA CTTCTGCATTCGTATTGAAACTTGACTACTTTGCCCACTGCCCTGATTGT TGTCCATGCCTTATCCTTGACCTCATATTTGAGATGGATGAAGCGTTCTT GTGTTCCCCTGTAGGATCTGAATCCAGTTTGGCCCTGAGGCTGGTGAATG GAGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGAGGCTCCTGG GGCACCGTGTGTGATGACTACTGGGACACCAATGATGCCAATGTGGTTTG CAGGCAGCTGGGCTGTGGCTGGGCCATGTCAGCCCCAGGAAATGCCCGGT TTGGCCAGGGTTCAGGACCCATTGTCCTGGATGATGTGCGCTGCTCAGGA CATGAGTCCTATCTGTGGAGCTGCCCCCACAATGGCTGGCTCTCCCACAA CTGTGGCCATCATGAAGACGCTGGTGTCATCTGCTCAGGTGGGCCTCCAA GACCTTCGGCTCCCTCTCCTAGGTTGGAGTTTGCTCAGGAAGAAAATCCT AATTACATTATGATCTCCTCTGAACTCACAGATTCTTCTATGTTTCTTGT ATTTATGCAGCCTTGTTAGCTCCCTGCTAAGAATCTGTATGAATTTTGCT ACAGCGGTTGGTGTTCATGTGGTCACTTAGGACAGGGGACCAAAGTCAAA CAACAACCCAGACTTTATCCCCTTCCTGAGGCAGTGCAAGGAAGAGGCAG AAGAGAAAACTGCTGGCTCCCCAGGGCTCCATTTCTTCCCTGCTGAGTAG CAGTGGTTGAGGGTATCATGGACATAGGACAGACAGCGGGGCAGAGGAGG GATCCTCTCACTGTGAGGAACTCTGAACCAAAGATGCTTGTCTGGAAGTG GGTTCTCAGCTGAGACCCAGTGAGGAGGTCTGGAAACAGAGGCTCAAGGG TTAGGAGTGCAAAATGGGTGTCTGGTTCTATCAGGCCTGGGTTGTGTGAG GTTGGAGTCCTTGACCTCAGGTCCTCTCAGAACGCTGCAGAGCACTGCCT TGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCCCATGAGACTGGCCAGGCT TGGCCTCATTATTGCCTGTGGTCGGGGCTTGAAGATCACACAAGGGATTT TGGCTGGAGTGGCTTCCTCAGCCTTGCTGACTCAGGAACACTTAAGATGT GCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGCGCAGACACA ATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGCCTCAACCCC TTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCCCTCCCTGTG TGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATTTCTTTCCCT CCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGATCTGACCTTC TCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCAGCCCAGGTA AGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTGCCCAATCAC CCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGGATACTGTGG GGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACATGGGTCCTTT TCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGGAAGGCATAC AAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACATCACATGTCA GCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGTTTTTATTGG TGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGGTCACAGAGA TCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATGGAGGCAGGG CAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAAGTTTCGGGC ACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTTGAGAGCAGA CAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCATCCTAATAA GCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCTTATCTGTAA GCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGCCTCCCCTTA GGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAAAGGAATTCA GCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTGGCTCTGTTC TGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCTTGTTCCCTG AACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGATTTCATATTG TTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCCTGAGGTGAC ATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTAAAGTAAAGA CAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGATAAGTGTCCA TGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGACAGGCGTAAG AAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCATGAAATCTT CAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCTGTTTGGGGT CCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACACATAGGATT CAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCATGAAACAGT TTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAGTGGCCCCAT GTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATATAGTTTCGA AAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTCAGGGCAGGC TCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATTATGATGGAC CACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAGGGAAAGGGA TAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGATTCCTGATT GTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGCCAGTGTCTG AGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCATCAGCAGAT GTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAAGATACCCCA GGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGACCTTTGTTC ATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATGGGAAGCAAG TGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCCCCTCCCAGA GAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCTGTCTTTTCC TTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCATCAACAGCAG GTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCTGGACATATT TTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCCTCTTTTTTC ACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGAGGAGCCAGT GCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGTCTCCCATGG AATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTGCTCAGGATG AGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCTGGCCCTCAG GCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCAGTCTCTGCA CTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAGAAGGCAGAG AGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGGGTCTGGGCT TGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAGAGTGGGGAA TGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATGCTTACCCAT AGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACTTTTTCCACT ATGACAAAGTTTAACCTCTGGGTGCAGCTATCTTCCATCATGACTGCATG CCCTGGTGACTTCTGCATTCGTATTGAAACTTGACTACTTTGCCCACTGC CCTGATTGTTGTCCATGCCTTATCCTTGACCTCATATTTGAGATGGATGA AGCGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTTTGGCCCTGAGGC TGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGA GGCTCCTGGGGCACCGTGTGTGATGACTACTGGGACACCAATGATGCCAA TGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGGCCACGTCAGCCCCAGGAA ATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGATGATGTGCGC TGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCCCCACAATGGCTGGCT CTCCCACAACTGTGGCCATCATGAAGACGCTGGTGTCATCTGCTCAGGTG GGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTGGAGTTTGCTCAGGAA GAAAATCCTAATTACATTATGATCTCCTCTGAACTCACAGATTCTTCTAT GTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTGCTAAGAATCTGTATG AATTTTGCTACAGCGGTTGGTGTTCATGTGGTCACTTAGGACAGGGGACC AAAGTCAAACAACAACCCAGACTTTATCCCCTTCCTGAGGCAGTGCAAGG AAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGGCTCCATTTCTTCCCT GCTGAGTAGCAGTGGTTGAGGGTATCATGGACATAGGACAGACAGCGGGG CAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGAACCAAAGATGCTTGT CTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGAGGTCTGGAAACAGAG GCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGTTCTATCAGGCCTGGG TTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAACGCTGCAGA GCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCCCATGAGACT GGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGGGCTTGAAGATCACAC AAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACTCAGGAACAC CTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGC GCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGC CTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCC CTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATT TCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGAT CTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCA GCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTG CCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGG ATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACAT GGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGG AAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACAT CACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGT TTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGG TCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATG GAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAA GTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTT GAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCA TCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCT TATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGC CTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAA AGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTG GCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCT TGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGAT TTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCC TGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTA AAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGAT AAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGAC AGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCA TGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCT GTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACA CATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCA TGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAG TGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATA TAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTC AGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATT ATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAG GGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGA TTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGC CAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCA TCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAA GATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGA CCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATG GGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCC CCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCT GTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCAT CAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCT GGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCC TCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGA GGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGT CTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTG CTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCT GGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCA GTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAG AAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGG GTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAG AGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATG CTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACT TTTTCCACTATGACAAAGTTTAACCTCTGGGTGCAGCTATCTTCCATCAT GACTGCATGCCCTGGTGACTTCTGCATTCGTATTGAAACTTGACTACTTT GCCCACTGCCCTGATTGTTGTCCATGCCTTATCCTTGACCTCATATTTGA GATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTTTGG CCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTC CTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACTACTGGGACACCAA TGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGGCCACGTCAG CCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGAT GATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCCCCACAA TGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACGCTGGTGTCATCT GCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTGGAGTTT GCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTCTGAACTCACAGA TTCTTCTATGTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTGCTAAGA ATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGTGGTCACTTAGGA CAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCCCCTTCCTGAGGC AGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGGCTCCAT TTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATGGACATAGGACAG ACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGAACCAAA GATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGAGGTCTG GAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGTTCTATC AGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAA CGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCC CATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGGGCTTGA AGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACT CAGGAACACCTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGG TTACCCTGCGCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGAC AGGATCTGCCTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATG GCAATGTCCCTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGAC TCGCCCATTTCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAAC ATTCCTGATCTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGC CGACACCCAGCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTT CTCTTTCTGCCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTC TCTGTGTGGATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGT ATTTCACATGGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGA AATAAAGGGAAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGG GGGAGACATCACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAA CCAGCAAGTTTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATA GGGTGTGGGTCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACA AGGTAAATGGAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATT GCTAATGAAGTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAG ACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCA ATTTCCTCATCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTAT TTCATCCCTTATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCAT TTCAGAGGCCTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTT GCTGAGAAAAGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAG AGAAATGTGGCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGT TATCTCCCTTGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAG TGCCCAGATTTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATC ACAGGGTCCTGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATT AAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGG GGAAGTGATAAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGC AGTAAAGACAGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAAT AAATGTCCATGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCC GGTCCCTCTGTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTT GAAAACACACATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCT CAGCTTTCATGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGG TTCAGGAAGTGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGG ACTCACATATAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAA GGCATTGTCAGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAAT TCTGAGATTATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTG CTTGGGCAGGGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCA GAAACCTGATTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACAT TTTATCTGCCAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCA GTCCATGCATCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAAC AGATAGAAAGATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCT CCAGCAGGACCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGA AGACACATGGGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGG TGGATTCCCCCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAG TCTAATTCTGTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCT CACATGCATCAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTC ACTGTCTCTGGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAG GTGGGCCCCTCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGG AATCTCTGAGGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCT GGTGACTGTCTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTC ATCCAGGTGCTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGAC CTCGTTCCTGGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTG AAAGTGCCAGTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCA AATTGCCAGAAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAAT TCGGAGGGGGTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTG TGTACCCAGAGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGG TCATACATGCTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAG GGCATCACTTTTTCCACTATGACAAAGT	C C	exon_loss_variant exon_loss_variant	HIGH	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01433.hp1 HG01928.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18946.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA19007.hp2 NA19030.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0003 a0004 a0007 others(32): Show a0003 a0004 a0007 a0010 a0015 a0017 a0018 a0019 a0020 a0022 a0023 a0026 a0027 a0028 a0040 a0044 a0045 a0047 a0048 a0052 a0056 a0057 a0059 a0063 a0064 a0066 a0069 a0073 a0079 a0082 a0085 a0088 a0091 a0092 a0093	a0003c0005 a0003c0017 a0003c0086 others(38): Show a0003c0005 a0003c0017 a0003c0086 a0004c0003 a0004c0082 a0007c0006 a0007c0109 a0010c0008 a0015c0014 a0015c0044 a0017c0040 a0017c0115 a0018c0020 a0019c0026 a0020c0025 a0022c0022 a0023c0021 a0026c0041 a0027c0037 a0028c0036 a0040c0093 a0044c0118 a0045c0111 a0047c0110 a0048c0108 a0052c0090 a0056c0116 a0057c0114 a0059c0087 a0063c0080 a0064c0081 a0066c0053 a0069c0056 a0073c0054 a0079c0055 a0082c0078 a0085c0083 a0088c0049 a0091c0045 a0092c0043 a0093c0042	a0003c0005t0001 a0003c0017t0001 a0003c0086t0002 others(44): Show a0003c0005t0001 a0003c0017t0001 a0003c0086t0002 a0004c0003t0001 a0004c0003t0003 a0004c0003t0004 a0004c0082t0003 a0007c0006t0002 a0007c0109t0001 a0010c0008t0001 a0010c0008t0004 a0015c0014t0001 a0015c0044t0002 a0017c0040t0001 a0017c0040t0009 a0017c0115t0001 a0018c0020t0002 a0019c0026t0004 a0020c0025t0001 a0020c0025t0003 a0022c0022t0002 a0023c0021t0003 a0023c0021t0005 a0026c0041t0001 a0027c0037t0001 a0028c0036t0001 a0040c0093t0001 a0044c0118t0001 a0045c0111t0001 a0047c0110t0002 a0048c0108t0003 a0052c0090t0002 a0056c0116t0001 a0057c0114t0003 a0059c0087t0001 a0063c0080t0001 a0064c0081t0001 a0066c0053t0001 a0069c0056t0007 a0073c0054t0001 a0079c0055t0001 a0082c0078t0001 a0085c0083t0003 a0088c0049t0001 a0091c0045t0001 a0092c0043t0001 a0093c0042t0001	a0003c0005t0001g0091 a0003c0005t0001g0092 a0003c0005t0001g0094 others(90): Show a0003c0005t0001g0091 a0003c0005t0001g0092 a0003c0005t0001g0094 a0003c0005t0001g0095 a0003c0005t0001g0096 a0003c0005t0001g0097 a0003c0005t0001g0106 a0003c0005t0001g0115 a0003c0005t0001g0153 a0003c0005t0001g0154 a0003c0005t0001g0261 a0003c0017t0001g0098 a0003c0017t0001g0099 a0003c0017t0001g0100 a0003c0017t0001g0101 a0003c0086t0002g0093 a0004c0003t0001g0123 a0004c0003t0001g0148 a0004c0003t0003g0009 a0004c0003t0003g0012 a0004c0003t0003g0134 a0004c0003t0003g0137 a0004c0003t0003g0138 a0004c0003t0003g0141 a0004c0003t0003g0142 a0004c0003t0003g0144 a0004c0003t0003g0149 a0004c0003t0003g0152 a0004c0003t0004g0228 a0004c0082t0003g0133 a0007c0006t0002g0006 a0007c0006t0002g0058 a0007c0006t0002g0062 a0007c0006t0002g0065 a0007c0006t0002g0066 a0007c0006t0002g0067 a0007c0006t0002g0080 a0007c0006t0002g0147 a0007c0109t0001g0063 a0010c0008t0001g0202 a0010c0008t0001g0243 a0010c0008t0001g0244 a0010c0008t0001g0245 a0010c0008t0001g0246 a0010c0008t0001g0249 a0010c0008t0004g0242 a0015c0014t0001g0087 a0015c0014t0001g0089 a0015c0014t0001g0112 a0015c0014t0001g0113 a0015c0044t0002g0088 a0017c0040t0001g0044 a0017c0040t0009g0039 a0017c0115t0001g0040 a0018c0020t0002g0051 a0018c0020t0002g0052 a0018c0020t0002g0053 a0019c0026t0004g0103 a0019c0026t0004g0104 a0019c0026t0004g0105 a0020c0025t0001g0014 a0020c0025t0003g0214 a0022c0022t0002g0211 a0022c0022t0002g0212 a0022c0022t0002g0235 a0023c0021t0003g0121 a0023c0021t0005g0010 a0026c0041t0001g0038 a0026c0041t0001g0042 a0027c0037t0001g0008 a0028c0036t0001g0120 a0028c0036t0001g0209 a0040c0093t0001g0048 a0044c0118t0001g0016 a0045c0111t0001g0061 a0047c0110t0002g0015 a0048c0108t0003g0035 a0052c0090t0002g0037 a0056c0116t0001g0041 a0057c0114t0003g0043 a0059c0087t0001g0170 a0063c0080t0001g0164 a0064c0081t0001g0241 a0066c0053t0001g0229 a0069c0056t0007g0247 a0073c0054t0001g0213 a0079c0055t0001g0117 a0082c0078t0001g0157 a0085c0083t0003g0143 a0088c0049t0001g0136 a0091c0045t0001g0114 a0092c0043t0001g0090 a0093c0042t0001g0110	99	282	0.3511	-12177	c.350 others(9): Show c.3506_4666del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	30/56	3523/7984			INFO_REALIGN_3_PRIME	chr10	TogoVar
DMBT1_chr10_122555754_122648736	122602824	TTAAGATG others(4052): Show TTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGC GCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGC CTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCC CTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATT TCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGAT CTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCA GCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTG CCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGG ATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACAT GGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGG AAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACAT CACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGT TTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGG TCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATG GAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAA GTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTT GAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCA TCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCT TATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGC CTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAA AGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTG GCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCT TGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGAT TTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCC TGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTA AAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGAT AAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGAC AGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCA TGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCT GTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACA CATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCA TGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAG TGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATA TAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTC AGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATT ATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAG GGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGA TTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGC CAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCA TCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAA GATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGA CCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATG GGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCC CCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCT GTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCAT CAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCT GGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCC TCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGA GGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGT CTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTG CTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCT GGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCA GTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAG AAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGG GTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAG AGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATG CTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACT TTTTCCACTATGACAAAGTTTAACCTCTGGGTGCAGCTATCTTCCATCAT GACTGCATGCCCTGGTGACTTCTGCATTCGTATTGAAACTTGACTACTTT GCCCACTGCCCTGATTGTTGTCCATGCCTTATCCTTGACCTCATATTTGA GATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTTTGG CCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTC CTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACTACTGGGACACCAA TGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGGCCACGTCAG CCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGAT GATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCCCCACAA TGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACGCTGGTGTCATCT GCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTGGAGTTT GCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTCTGAACTCACAGA TTCTTCTATGTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTGCTAAGA ATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGTGGTCACTTAGGA CAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCCCCTTCCTGAGGC AGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGGCTCCAT TTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATGGACATAGGACAG ACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGAACCAAA GATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGAGGTCTG GAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGTTCTATC AGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAA CGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCC CATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGGGCTTGA AGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACT CAGGAACACC	T T	exon_loss_variant exon_loss_variant	HIGH	HG00280.hp2 HG00639.hp2 HG00642.hp1 others(42): Show HG00280.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01256.hp2 HG01346.hp2 HG01433.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02155.hp2 HG02486.hp2 HG02615.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG03490.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 NA18974.hp2 NA19060.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0012 a0021 others(11): Show a0001 a0012 a0021 a0030 a0034 a0035 a0039 a0041 a0055 a0060 a0071 a0083 a0084 a0086	a0001c0001 a0001c0004 a0001c0027 others(16): Show a0001c0001 a0001c0004 a0001c0027 a0001c0064 a0001c0073 a0012c0013 a0021c0024 a0030c0061 a0030c0062 a0034c0034 a0035c0033 a0039c0101 a0041c0107 a0055c0117 a0060c0088 a0071c0059 a0083c0079 a0084c0050 a0086c0084	a0001c0001t0002 a0001c0004t0001 a0001c0004t0003 others(19): Show a0001c0001t0002 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0027t0002 a0001c0064t0003 a0001c0073t0003 a0012c0013t0001 a0012c0013t0003 a0021c0024t0002 a0030c0061t0002 a0030c0062t0002 a0034c0034t0002 a0035c0033t0002 a0039c0101t0002 a0041c0107t0003 a0055c0117t0001 a0060c0088t0008 a0071c0059t0002 a0083c0079t0001 a0084c0050t0002 a0086c0084t0002	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0145 others(42): Show a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0145 a0001c0001t0002g0182 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0224 a0001c0001t0002g0233 a0001c0004t0001g0220 a0001c0004t0001g0221 a0001c0004t0001g0230 a0001c0004t0001g0236 a0001c0004t0003g0166 a0001c0004t0003g0210 a0001c0004t0004g0163 a0001c0027t0002g0160 a0001c0027t0002g0161 a0001c0027t0002g0175 a0001c0064t0003g0250 a0001c0073t0003g0240 a0012c0013t0001g0068 a0012c0013t0003g0064 a0012c0013t0003g0078 a0012c0013t0003g0081 a0021c0024t0002g0122 a0021c0024t0002g0222 a0021c0024t0002g0223 a0030c0061t0002g0238 a0030c0062t0002g0237 a0034c0034t0002g0253 a0034c0034t0002g0254 a0035c0033t0002g0251 a0035c0033t0002g0252 a0039c0101t0002g0079 a0041c0107t0003g0074 a0055c0117t0001g0055 a0060c0088t0008g0102 a0071c0059t0002g0171 a0083c0079t0001g0109 a0084c0050t0002g0168 a0086c0084t0002g0155	45	282	0.1596	-4059	c.447 others(15): Show c.4472-84_4859-86del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	37/56				INFO_REALIGN_3_PRIME	chr10	TogoVar
DNA2_chr10_68409064_68476973	68471789	ACAGCTCC others(5): Show ACAGCTCCGCCGG	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG04115.hp2 HG04115.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0322 a0005c0013t0001g0322	1	326	0.0031	-12	c.64_ others(19): Show c.64_74+1delCCGGCGGAGCTG	p.Pro others(4): Show p.Pro22fs	DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding	1/21		64/3183	22/1060		chr10	TogoVar
DNAH11_chr7_21538039_21906839	21543345	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18992.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0008 a0009 a0016 others(81): Show a0008 a0009 a0016 a0017 a0018 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0159 a0160 a0161 a0162 a0163 a0164 a0165 a0166 a0167 a0168 a0169 a0170 a0171 a0172 a0173 a0174 a0175 a0176 a0177 a0178 a0179 a0180 a0181 a0182 a0183 a0184 a0185 a0186 a0187 a0188 a0189 a0190 a0191 a0192 a0193 a0194 a0195 a0196 a0197 a0198 a0199 a0200 a0201 a0202 a0203 a0204 a0205 a0206 a0207 a0208 a0209 a0210 a0211 a0212 a0213 a0214 a0215 a0216 a0217 a0218 a0219 a0220 a0221 a0222 a0223 a0224 a0225 a0226	a0008c0214 a0008c0262 a0008c0266 others(98): Show a0008c0214 a0008c0262 a0008c0266 a0008c0272 a0009c0210 a0009c0212 a0009c0217 a0009c0270 a0016c0268 a0016c0271 a0016c0277 a0017c0016 a0017c0199 a0018c0017 a0018c0202 a0031c0218 a0031c0263 a0032c0244 a0032c0267 a0033c0021 a0034c0020 a0035c0198 a0035c0203 a0036c0229 a0036c0237 a0037c0224 a0037c0226 a0038c0019 a0039c0222 a0039c0223 a0040c0018 a0041c0253 a0041c0254 a0159c0251 a0160c0240 a0161c0250 a0162c0239 a0163c0252 a0164c0193 a0165c0184 a0166c0191 a0167c0192 a0168c0183 a0169c0188 a0170c0190 a0171c0189 a0172c0186 a0173c0187 a0174c0185 a0175c0242 a0176c0216 a0177c0246 a0178c0243 a0179c0264 a0180c0269 a0181c0265 a0182c0273 a0183c0211 a0184c0276 a0185c0245 a0186c0247 a0187c0248 a0188c0209 a0189c0206 a0190c0205 a0191c0201 a0192c0200 a0193c0196 a0194c0204 a0195c0213 a0196c0215 a0197c0194 a0198c0207 a0199c0197 a0200c0195 a0201c0208 a0202c0241 a0203c0231 a0204c0236 a0205c0225 a0206c0230 a0207c0235 a0208c0232 a0209c0234 a0210c0228 a0211c0233 a0212c0227 a0213c0238 a0214c0220 a0215c0221 a0216c0219 a0217c0274 a0218c0275 a0219c0249 a0220c0255 a0221c0256 a0222c0258 a0223c0259 a0224c0261 a0225c0257 a0226c0260	a0008c0214t0006 a0008c0262t0001 a0008c0266t0005 others(99): Show a0008c0214t0006 a0008c0262t0001 a0008c0266t0005 a0008c0272t0001 a0009c0210t0001 a0009c0212t0001 a0009c0217t0001 a0009c0270t0006 a0016c0268t0002 a0016c0271t0002 a0016c0277t0002 a0017c0016t0003 a0017c0199t0003 a0018c0017t0011 a0018c0202t0006 a0031c0218t0002 a0031c0263t0002 a0032c0244t0003 a0032c0267t0005 a0033c0021t0002 a0033c0021t0004 a0034c0020t0006 a0035c0198t0002 a0035c0203t0002 a0036c0229t0005 a0036c0237t0005 a0037c0224t0001 a0037c0226t0001 a0038c0019t0003 a0039c0222t0002 a0039c0223t0002 a0040c0018t0001 a0041c0253t0003 a0041c0254t0003 a0159c0251t0004 a0160c0240t0004 a0161c0250t0002 a0162c0239t0003 a0163c0252t0001 a0164c0193t0004 a0165c0184t0001 a0166c0191t0003 a0167c0192t0005 a0168c0183t0004 a0169c0188t0003 a0170c0190t0026 a0171c0189t0021 a0172c0186t0001 a0173c0187t0024 a0174c0185t0001 a0175c0242t0001 a0176c0216t0003 a0177c0246t0001 a0178c0243t0002 a0179c0264t0005 a0180c0269t0004 a0181c0265t0003 a0182c0273t0017 a0183c0211t0012 a0184c0276t0013 a0185c0245t0005 a0186c0247t0002 a0187c0248t0001 a0188c0209t0002 a0189c0206t0004 a0190c0205t0001 a0191c0201t0003 a0192c0200t0012 a0193c0196t0023 a0194c0204t0002 a0195c0213t0003 a0196c0215t0003 a0197c0194t0001 a0198c0207t0002 a0199c0197t0004 a0200c0195t0002 a0201c0208t0006 a0202c0241t0001 a0203c0231t0005 a0204c0236t0002 a0205c0225t0002 a0206c0230t0010 a0207c0235t0001 a0208c0232t0003 a0209c0234t0005 a0210c0228t0003 a0211c0233t0002 a0212c0227t0003 a0213c0238t0003 a0214c0220t0001 a0215c0221t0001 a0216c0219t0001 a0217c0274t0003 a0218c0275t0002 a0219c0249t0002 a0220c0255t0002 a0221c0256t0007 a0222c0258t0007 a0223c0259t0007 a0224c0261t0007 a0225c0257t0007 a0226c0260t0016	a0008c0214t0006g0175 a0008c0262t0001g0139 a0008c0266t0005g0137 others(104): Show a0008c0214t0006g0175 a0008c0262t0001g0139 a0008c0266t0005g0137 a0008c0272t0001g0185 a0009c0210t0001g0209 a0009c0212t0001g0216 a0009c0217t0001g0182 a0009c0270t0006g0148 a0016c0268t0002g0150 a0016c0271t0002g0153 a0016c0277t0002g0155 a0017c0016t0003g0172 a0017c0016t0003g0173 a0017c0199t0003g0141 a0018c0017t0011g0170 a0018c0017t0011g0171 a0018c0202t0006g0163 a0031c0218t0002g0130 a0031c0263t0002g0140 a0032c0244t0003g0180 a0032c0267t0005g0186 a0033c0021t0002g0144 a0033c0021t0004g0152 a0034c0020t0006g0138 a0034c0020t0006g0145 a0035c0198t0002g0143 a0035c0203t0002g0162 a0036c0229t0005g0207 a0036c0237t0005g0201 a0037c0224t0001g0218 a0037c0226t0001g0136 a0038c0019t0003g0156 a0038c0019t0003g0190 a0039c0222t0002g0181 a0039c0223t0002g0178 a0040c0018t0001g0128 a0040c0018t0001g0157 a0041c0253t0003g0179 a0041c0254t0003g0161 a0159c0251t0004g0198 a0160c0240t0004g0132 a0161c0250t0002g0133 a0162c0239t0003g0215 a0163c0252t0001g0199 a0164c0193t0004g0188 a0165c0184t0001g0225 a0166c0191t0003g0189 a0167c0192t0005g0197 a0168c0183t0004g0211 a0169c0188t0003g0214 a0170c0190t0026g0219 a0171c0189t0021g0196 a0172c0186t0001g0210 a0173c0187t0024g0187 a0174c0185t0001g0224 a0175c0242t0001g0129 a0176c0216t0003g0158 a0177c0246t0001g0231 a0178c0243t0002g0195 a0179c0264t0005g0146 a0180c0269t0004g0151 a0181c0265t0003g0147 a0182c0273t0017g0149 a0183c0211t0012g0232 a0184c0276t0013g0154 a0185c0245t0005g0127 a0186c0247t0002g0167 a0187c0248t0001g0230 a0188c0209t0002g0164 a0189c0206t0004g0174 a0190c0205t0001g0229 a0191c0201t0003g0131 a0192c0200t0012g0134 a0193c0196t0023g0169 a0194c0204t0002g0165 a0195c0213t0003g0142 a0196c0215t0003g0202 a0197c0194t0001g0159 a0198c0207t0002g0166 a0199c0197t0004g0176 a0200c0195t0002g0168 a0201c0208t0006g0177 a0202c0241t0001g0194 a0203c0231t0005g0192 a0204c0236t0002g0213 a0205c0225t0002g0204 a0206c0230t0010g0203 a0207c0235t0001g0206 a0208c0232t0003g0208 a0209c0234t0005g0212 a0210c0228t0003g0191 a0211c0233t0002g0205 a0212c0227t0003g0135 a0213c0238t0003g0193 a0214c0220t0001g0200 a0215c0221t0001g0233 a0216c0219t0001g0223 a0217c0274t0003g0184 a0218c0275t0002g0183 a0219c0249t0002g0217 a0220c0255t0002g0160 a0221c0256t0007g0221 a0222c0258t0007g0228 a0223c0259t0007g0220 a0224c0261t0007g0227 a0225c0257t0007g0222 a0226c0260t0016g0226	107	298	0.3591	0	c.100 others(3): Show c.100G>T	p.Glu others(3): Show p.Glu34*	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	1/82	307/14343	100/13551	34/4516		chr7	TogoVar
DUSP13_chr10_75089436_75104512	75099203	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(161): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19089.hp1 NA20129.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0001c0007t0001 a0001c0012t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0004g0052 a0001c0006t0001g0014 a0001c0006t0001g0053 a0001c0007t0001g0017 a0001c0012t0001g0050 a0001c0013t0001g0058	164	404	0.4059	-1	c.234 others(4): Show c.234delA	p.Ala others(4): Show p.Ala80fs	DUSP13	ENSG00000079393.22	transcript	ENST00000478873.7	protein_coding	1/4	309/1320	234/1005	78/334		chr10	TogoVar
DZANK1_chr20_18378367_18472030	18412855	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(210): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0018	a0001c0001 a0001c0007 a0001c0015 others(16): Show a0001c0001 a0001c0007 a0001c0015 a0002c0004 a0002c0005 a0002c0022 a0003c0016 a0004c0027 a0005c0008 a0006c0009 a0007c0011 a0009c0019 a0010c0029 a0011c0021 a0012c0026 a0013c0035 a0015c0031 a0016c0023 a0018c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0007t0002 a0001c0007t0003 a0001c0007t0004 a0001c0007t0008 a0001c0007t0012 a0001c0007t0013 a0001c0015t0004 a0001c0015t0010 a0002c0004t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0014 a0002c0004t0015 a0002c0005t0001 a0002c0005t0003 a0002c0022t0001 a0003c0016t0002 a0004c0027t0008 a0005c0008t0001 a0005c0008t0003 a0006c0009t0001 a0006c0009t0005 a0007c0011t0007 a0009c0019t0002 a0010c0029t0005 a0011c0021t0002 a0012c0026t0003 a0013c0035t0011 a0015c0031t0003 a0016c0023t0001 a0018c0030t0005	a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0333 others(196): Show a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0333 a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0261 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0003g0246 a0001c0001t0009g0024 a0001c0001t0009g0179 a0001c0001t0009g0332 a0001c0001t0010g0277 a0001c0001t0011g0275 a0001c0007t0002g0011 a0001c0007t0002g0139 a0001c0007t0002g0140 a0001c0007t0002g0228 a0001c0007t0002g0229 a0001c0007t0003g0342 a0001c0007t0004g0022 a0001c0007t0004g0117 a0001c0007t0004g0201 a0001c0007t0004g0234 a0001c0007t0004g0249 a0001c0007t0004g0256 a0001c0007t0004g0257 a0001c0007t0004g0258 a0001c0007t0008g0243 a0001c0007t0008g0244 a0001c0007t0012g0111 a0001c0007t0013g0238 a0001c0015t0004g0259 a0001c0015t0004g0260 a0001c0015t0010g0178 a0001c0015t0010g0245 a0002c0004t0001g0034 a0002c0004t0001g0041 a0002c0004t0001g0043 a0002c0004t0001g0044 a0002c0004t0001g0049 a0002c0004t0001g0050 a0002c0004t0001g0054 a0002c0004t0001g0072 a0002c0004t0001g0082 a0002c0004t0001g0096 a0002c0004t0001g0248 a0002c0004t0003g0005 a0002c0004t0003g0006 a0002c0004t0003g0033 a0002c0004t0003g0035 a0002c0004t0003g0036 a0002c0004t0003g0040 a0002c0004t0003g0042 a0002c0004t0003g0045 a0002c0004t0003g0048 a0002c0004t0003g0051 a0002c0004t0003g0052 a0002c0004t0003g0055 a0002c0004t0003g0056 a0002c0004t0003g0057 a0002c0004t0003g0061 a0002c0004t0003g0066 a0002c0004t0003g0071 a0002c0004t0003g0073 a0002c0004t0003g0074 a0002c0004t0003g0075 a0002c0004t0003g0079 a0002c0004t0003g0080 a0002c0004t0003g0081 a0002c0004t0003g0086 a0002c0004t0003g0087 a0002c0004t0003g0088 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0095 a0002c0004t0003g0295 a0002c0004t0008g0286 a0002c0004t0014g0284 a0002c0004t0015g0039 a0002c0005t0001g0007 a0002c0005t0001g0008 a0002c0005t0001g0015 a0002c0005t0001g0115 a0002c0005t0001g0116 a0002c0005t0001g0120 a0002c0005t0001g0121 a0002c0005t0001g0123 a0002c0005t0001g0124 a0002c0005t0001g0125 a0002c0005t0001g0126 a0002c0005t0001g0127 a0002c0005t0001g0128 a0002c0005t0001g0129 a0002c0005t0001g0132 a0002c0005t0001g0133 a0002c0005t0001g0134 a0002c0005t0001g0135 a0002c0005t0001g0151 a0002c0005t0001g0154 a0002c0005t0001g0180 a0002c0005t0001g0181 a0002c0005t0001g0188 a0002c0005t0001g0190 a0002c0005t0001g0191 a0002c0005t0001g0192 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0195 a0002c0005t0001g0240 a0002c0005t0003g0122 a0002c0005t0003g0144 a0002c0005t0003g0230 a0002c0005t0003g0239 a0002c0022t0001g0130 a0003c0016t0002g0206 a0003c0016t0002g0271 a0004c0027t0008g0235 a0005c0008t0001g0002 a0005c0008t0001g0231 a0005c0008t0001g0263 a0005c0008t0001g0264 a0005c0008t0001g0265 a0005c0008t0001g0266 a0005c0008t0003g0207 a0006c0009t0001g0146 a0006c0009t0005g0012 a0006c0009t0005g0145 a0006c0009t0005g0147 a0006c0009t0005g0237 a0006c0009t0005g0273 a0007c0011t0007g0004 a0007c0011t0007g0028 a0007c0011t0007g0029 a0007c0011t0007g0030 a0009c0019t0002g0304 a0009c0019t0002g0329 a0010c0029t0005g0136 a0011c0021t0002g0182 a0012c0026t0003g0187 a0013c0035t0011g0097 a0015c0031t0003g0247 a0016c0023t0001g0131 a0018c0030t0005g0148	213	374	0.5695	0	c.130 others(6): Show c.1300-2G>A		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	12/20					chr20	TogoVar
EBLN2_chr3_73056659_73068337	73062330	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show HG00099.hp1 HG00423.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0002c0009 a0005c0006 others(1): Show a0002c0002 a0002c0009 a0005c0006 a0006c0007	a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 others(8): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0022 a0002c0002t0023 a0002c0009t0003 a0005c0006t0002 a0006c0007t0002	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 others(8): Show a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0002t0014g0000 a0002c0002t0022g0000 a0002c0002t0023g0000 a0002c0009t0003g0000 a0005c0006t0002g0000 a0006c0007t0002g0000	114	428	0.2664	1	c.250 others(4): Show c.250dupA	p.Arg others(4): Show p.Arg84fs	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding	1/1	674/1679	251/819	84/272	INFO_REALIGN_3_PRIME	chr3	TogoVar
EDDM13_chr19_56267748_56315454	56304791	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02129.hp1 HG04115.hp2 NA18960.hp2 HG02129.hp1 HG04115.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0229 a0001c0001t0003g0296 a0001c0001t0005g0175 a0001c0001t0003g0229 a0001c0001t0003g0296 a0001c0001t0005g0175	3	396	0.0076	0	c.424 others(5): Show c.424-2A>C		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14					chr19	TogoVar
EFCAB2_chr1_244964682_245092837	244970321	T T	TCCTCC TCCTCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(112): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02647.hp2 HG02818.hp1 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03471.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG04115.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19062.hp2 NA19065.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 others(112): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0054 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0092 a0001c0001t0003g0103 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0011g0278 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0004g0034 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0055 a0001c0002t0004g0064 a0001c0002t0004g0066 a0001c0002t0004g0073 a0001c0002t0004g0113	115	290	0.3966	5	c.-90 others(16): Show c.-90-7_-90-3dupCCTCC		EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	1/7				INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB8_chr20_32853923_32966845	32878768	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01123.hp2 HG01975.hp2 HG02027.hp1 others(11): Show HG01123.hp2 HG01975.hp2 HG02027.hp1 HG02055.hp2 HG02109.hp1 HG02970.hp2 HG03471.hp1 HG04115.hp1 NA18953.hp1 NA18959.hp1 NA18961.hp1 NA18998.hp1 NA19030.hp2 NA19068.hp2	a0005 a0029 a0005 a0029	a0005c0008 a0005c0013 a0005c0033 others(5): Show a0005c0008 a0005c0013 a0005c0033 a0005c0034 a0005c0035 a0005c0036 a0005c0037 a0029c0059	a0005c0008t0001 a0005c0008t0002 a0005c0008t0004 others(9): Show a0005c0008t0001 a0005c0008t0002 a0005c0008t0004 a0005c0013t0001 a0005c0013t0002 a0005c0013t0004 a0005c0033t0008 a0005c0034t0002 a0005c0035t0001 a0005c0036t0004 a0005c0037t0004 a0029c0059t0003	a0005c0008t0001g0002 a0005c0008t0001g0063 a0005c0008t0001g0214 others(11): Show a0005c0008t0001g0002 a0005c0008t0001g0063 a0005c0008t0001g0214 a0005c0008t0002g0050 a0005c0008t0004g0205 a0005c0013t0001g0200 a0005c0013t0002g0024 a0005c0013t0004g0097 a0005c0033t0008g0113 a0005c0034t0002g0031 a0005c0035t0001g0095 a0005c0036t0004g0180 a0005c0037t0004g0183 a0029c0059t0003g0071	14	284	0.0493	1	c.394 others(4): Show c.394dupC	p.Arg others(5): Show p.Arg132fs	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	5/27	489/4197	395/3867	132/1288	INFO_REALIGN_3_PRIME	chr20	TogoVar
EGFL8_chr6_32159595_32173281	32166618	C C	G G	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0005 a0005c0007t0005	a0005c0007t0005g0003 a0005c0007t0005g0003	1	433	0.0023	0	c.222 others(3): Show c.222C>G	p.Tyr others(3): Show p.Tyr74*	EGFL8	ENSG00000241404.7	transcript	ENST00000333845.11	protein_coding	3/9	313/1298	222/882	74/293		chr6	TogoVar
ERFL_chr19_41902704_41933449	41908239	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00544.hp1 HG00597.hp1 others(8): Show HG00438.hp1 HG00544.hp1 HG00597.hp1 HG01168.hp2 HG01978.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp2 NA19084.hp1 NA19090.hp1	a0000 a0000	a0000c0003 a0000c0005 a0000c0003 a0000c0005	a0000c0003t0001 a0000c0003t0003 a0000c0003t0015 others(1): Show a0000c0003t0001 a0000c0003t0003 a0000c0003t0015 a0000c0005t0002	a0000c0003t0001g0033 a0000c0003t0001g0088 a0000c0003t0001g0110 others(8): Show a0000c0003t0001g0033 a0000c0003t0001g0088 a0000c0003t0001g0110 a0000c0003t0001g0167 a0000c0003t0001g0170 a0000c0003t0003g0238 a0000c0003t0003g0248 a0000c0003t0003g0279 a0000c0003t0015g0283 a0000c0005t0002g0099 a0000c0005t0002g0119	11	330	0.0333	1	c.105 others(5): Show c.1053dupG	p.Thr others(5): Show p.Thr352fs	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	6/6	1476/2012	1053/1065	351/354		chr19	TogoVar
FAM166A_chr9_137238599_137252751	137245305	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(415): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0005 others(22): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0021 a0001c0022 a0001c0024 a0002c0003 a0003c0004 a0003c0019 a0004c0007 a0005c0009 a0006c0008 a0007c0025 a0008c0023 a0009c0020 a0010c0015 a0011c0013 a0012c0011	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(22): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0010t0001 a0001c0012t0001 a0001c0014t0001 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0021t0001 a0001c0022t0001 a0001c0024t0001 a0002c0003t0001 a0003c0004t0001 a0003c0019t0001 a0004c0007t0001 a0005c0009t0001 a0006c0008t0001 a0007c0025t0001 a0008c0023t0001 a0009c0020t0001 a0010c0015t0001 a0011c0013t0001 a0012c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(68): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0036 a0001c0002t0001g0052 a0001c0002t0001g0070 a0001c0005t0001g0013 a0001c0005t0001g0061 a0001c0006t0001g0018 a0001c0006t0001g0050 a0001c0010t0001g0026 a0001c0012t0001g0058 a0001c0014t0001g0034 a0001c0016t0001g0037 a0001c0017t0001g0063 a0001c0018t0001g0039 a0001c0021t0001g0044 a0001c0022t0001g0049 a0001c0024t0001g0069 a0002c0003t0001g0003 a0002c0003t0001g0059 a0003c0004t0001g0005 a0003c0004t0001g0064 a0003c0019t0001g0040 a0004c0007t0001g0021 a0004c0007t0001g0071 a0005c0009t0001g0025 a0006c0008t0001g0038 a0006c0008t0001g0068 a0007c0025t0001g0045 a0008c0023t0001g0066 a0009c0020t0001g0041 a0010c0015t0001g0033 a0011c0013t0001g0031 a0012c0011t0001g0057	418	418	1.0000	0	c.522 others(5): Show c.522+2C>T		FAM166A	ENSG00000188163.8	transcript	ENST00000344774.6	protein_coding	3/6					chr9	TogoVar
FAM187B_chr19_35219800_35233739	35228117	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18991.hp2 NA18995.hp2 NA19000.hp2 NA19003.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19081.hp2 NA19086.hp1 NA19091.hp1 NA19240.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0005 a0002c0006 others(3): Show a0002c0002 a0002c0005 a0002c0006 a0002c0008 a0002c0009 a0007c0014	a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0006t0001 a0002c0008t0001 a0002c0009t0001 a0007c0014t0001	a0002c0002t0001g0002 a0002c0002t0002g0018 a0002c0005t0001g0006 others(7): Show a0002c0002t0001g0002 a0002c0002t0002g0018 a0002c0005t0001g0006 a0002c0005t0001g0027 a0002c0006t0001g0007 a0002c0006t0001g0032 a0002c0008t0001g0014 a0002c0009t0001g0022 a0002c0009t0001g0031 a0007c0014t0001g0026	126	450	0.2800	0	c.564 others(3): Show c.564G>A	p.Trp others(4): Show p.Trp188*	FAM187B	ENSG00000177558.4	transcript	ENST00000324675.4	protein_coding	1/2	623/1194	564/1110	188/369		chr19	TogoVar
FAM90A17_chr8_7741034_7754044	7747419	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00558.hp1 others(73): Show HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00558.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02896.hp2 HG03017.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18943.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18991.hp1 NA18998.hp1 NA19043.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0005 others(21): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0018 a0019 a0021 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0037 a0038	a0001c0001 a0001c0015 a0002c0005 others(26): Show a0001c0001 a0001c0015 a0002c0005 a0002c0012 a0002c0029 a0002c0049 a0005c0004 a0006c0006 a0006c0023 a0007c0008 a0008c0007 a0009c0010 a0010c0013 a0011c0017 a0012c0014 a0013c0016 a0014c0011 a0018c0037 a0019c0036 a0021c0026 a0024c0033 a0025c0028 a0026c0030 a0027c0032 a0028c0031 a0029c0027 a0030c0034 a0037c0038 a0038c0048	a0001c0001t0000 a0001c0015t0000 a0002c0005t0000 others(26): Show a0001c0001t0000 a0001c0015t0000 a0002c0005t0000 a0002c0012t0000 a0002c0029t0000 a0002c0049t0000 a0005c0004t0000 a0006c0006t0000 a0006c0023t0000 a0007c0008t0000 a0008c0007t0000 a0009c0010t0000 a0010c0013t0000 a0011c0017t0000 a0012c0014t0000 a0013c0016t0000 a0014c0011t0000 a0018c0037t0000 a0019c0036t0000 a0021c0026t0000 a0024c0033t0000 a0025c0028t0000 a0026c0030t0000 a0027c0032t0000 a0028c0031t0000 a0029c0027t0000 a0030c0034t0000 a0037c0038t0000 a0038c0048t0000	a0001c0001t0000g0001 a0001c0001t0000g0002 a0001c0001t0000g0003 others(50): Show a0001c0001t0000g0001 a0001c0001t0000g0002 a0001c0001t0000g0003 a0001c0001t0000g0007 a0001c0001t0000g0008 a0001c0001t0000g0015 a0001c0001t0000g0016 a0001c0001t0000g0017 a0001c0001t0000g0038 a0001c0001t0000g0039 a0001c0001t0000g0042 a0001c0001t0000g0043 a0001c0001t0000g0047 a0001c0001t0000g0049 a0001c0015t0000g0003 a0002c0005t0000g0012 a0002c0005t0000g0022 a0002c0005t0000g0035 a0002c0012t0000g0012 a0002c0012t0000g0037 a0002c0029t0000g0033 a0002c0049t0000g0032 a0005c0004t0000g0002 a0006c0006t0000g0006 a0006c0006t0000g0027 a0006c0006t0000g0028 a0006c0023t0000g0006 a0007c0008t0000g0001 a0007c0008t0000g0018 a0007c0008t0000g0041 a0008c0007t0000g0002 a0008c0007t0000g0046 a0009c0010t0000g0006 a0010c0013t0000g0030 a0010c0013t0000g0034 a0011c0017t0000g0048 a0011c0017t0000g0059 a0012c0014t0000g0014 a0013c0016t0000g0003 a0013c0016t0000g0008 a0014c0011t0000g0013 a0018c0037t0000g0040 a0019c0036t0000g0044 a0021c0026t0000g0021 a0024c0033t0000g0001 a0025c0028t0000g0031 a0026c0030t0000g0058 a0027c0032t0000g0001 a0028c0031t0000g0018 a0029c0027t0000g0020 a0030c0034t0000g0007 a0037c0038t0000g0045 a0038c0048t0000g0029	76	108	0.7037	0	c.432 others(5): Show c.432+2T>C		FAM90A17	ENSG00000285720.1	transcript	ENST00000650426.1	protein_coding	3/3					chr8	TogoVar
FAM90A19_chr8_7748682_7761692	7755067	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00423.hp1 HG00423.hp2 HG00558.hp1 others(70): Show HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02083.hp1 HG02083.hp2 HG02165.hp1 HG02165.hp2 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03704.hp2 HG04115.hp1 HG04228.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18951.hp1 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA19059.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0003 a0005 others(25): Show a0001 a0003 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0040 a0046	a0001c0001 a0001c0033 a0003c0003 others(26): Show a0001c0001 a0001c0033 a0003c0003 a0005c0005 a0006c0006 a0007c0007 a0009c0010 a0010c0011 a0011c0008 a0012c0009 a0014c0015 a0015c0014 a0016c0021 a0017c0022 a0018c0023 a0019c0024 a0020c0025 a0024c0037 a0025c0029 a0026c0036 a0027c0034 a0028c0035 a0029c0031 a0030c0032 a0031c0030 a0032c0038 a0033c0039 a0040c0047 a0046c0048	a0001c0001t0000 a0001c0033t0000 a0003c0003t0000 others(26): Show a0001c0001t0000 a0001c0033t0000 a0003c0003t0000 a0005c0005t0000 a0006c0006t0000 a0007c0007t0000 a0009c0010t0000 a0010c0011t0000 a0011c0008t0000 a0012c0009t0000 a0014c0015t0000 a0015c0014t0000 a0016c0021t0000 a0017c0022t0000 a0018c0023t0000 a0019c0024t0000 a0020c0025t0000 a0024c0037t0000 a0025c0029t0000 a0026c0036t0000 a0027c0034t0000 a0028c0035t0000 a0029c0031t0000 a0030c0032t0000 a0031c0030t0000 a0032c0038t0000 a0033c0039t0000 a0040c0047t0000 a0046c0048t0000	a0001c0001t0000g0002 a0001c0001t0000g0004 a0001c0001t0000g0005 others(48): Show a0001c0001t0000g0002 a0001c0001t0000g0004 a0001c0001t0000g0005 a0001c0001t0000g0007 a0001c0001t0000g0008 a0001c0001t0000g0011 a0001c0001t0000g0016 a0001c0001t0000g0039 a0001c0001t0000g0040 a0001c0001t0000g0041 a0001c0001t0000g0042 a0001c0001t0000g0043 a0001c0001t0000g0045 a0001c0001t0000g0047 a0001c0001t0000g0052 a0001c0001t0000g0059 a0001c0033t0000g0005 a0003c0003t0000g0003 a0003c0003t0000g0034 a0005c0005t0000g0002 a0005c0005t0000g0015 a0005c0005t0000g0048 a0005c0005t0000g0051 a0006c0006t0000g0002 a0007c0007t0000g0009 a0009c0010t0000g0008 a0010c0011t0000g0046 a0010c0011t0000g0058 a0011c0008t0000g0014 a0011c0008t0000g0023 a0012c0009t0000g0005 a0012c0009t0000g0007 a0014c0015t0000g0044 a0015c0014t0000g0002 a0016c0021t0000g0026 a0017c0022t0000g0036 a0018c0023t0000g0025 a0019c0024t0000g0019 a0020c0025t0000g0003 a0024c0037t0000g0035 a0025c0029t0000g0014 a0026c0036t0000g0049 a0027c0034t0000g0016 a0028c0035t0000g0004 a0029c0031t0000g0053 a0030c0032t0000g0050 a0031c0030t0000g0037 a0032c0038t0000g0024 a0033c0039t0000g0038 a0040c0047t0000g0015 a0046c0048t0000g0002	73	116	0.6293	0	c.432 others(5): Show c.432+2T>C		FAM90A19	ENSG00000285657.1	transcript	ENST00000647903.1	protein_coding	3/3					chr8	TogoVar
FBRSL1_chr12_132485151_132590188	132583374	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00438.hp2 HG01109.hp2 others(30): Show HG00423.hp1 HG00438.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG02055.hp1 HG02055.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02486.hp2 HG02602.hp1 HG02895.hp2 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18950.hp2 NA18969.hp1 NA18986.hp1 NA19004.hp1 NA19010.hp1 NA19067.hp1 NA19067.hp2 NA19240.hp2	a0000 a0005 a0010 others(6): Show a0000 a0005 a0010 a0011 a0017 a0021 a0028 a0029 a0032	a0000c0014 a0000c0019 a0000c0022 others(17): Show a0000c0014 a0000c0019 a0000c0022 a0000c0035 a0000c0063 a0000c0071 a0000c0080 a0000c0084 a0000c0089 a0005c0052 a0005c0054 a0010c0034 a0010c0064 a0010c0065 a0011c0016 a0017c0029 a0021c0076 a0028c0066 a0029c0059 a0032c0040	a0000c0014t0001 a0000c0014t0003 a0000c0014t0033 others(24): Show a0000c0014t0001 a0000c0014t0003 a0000c0014t0033 a0000c0019t0006 a0000c0019t0011 a0000c0022t0001 a0000c0035t0007 a0000c0035t0048 a0000c0063t0051 a0000c0071t0018 a0000c0080t0045 a0000c0084t0036 a0000c0089t0008 a0005c0052t0006 a0005c0054t0003 a0010c0034t0005 a0010c0034t0006 a0010c0064t0009 a0010c0065t0020 a0011c0016t0002 a0011c0016t0003 a0017c0029t0001 a0017c0029t0003 a0021c0076t0015 a0028c0066t0014 a0029c0059t0002 a0032c0040t0001	a0000c0014t0001g0148 a0000c0014t0001g0208 a0000c0014t0003g0191 others(30): Show a0000c0014t0001g0148 a0000c0014t0001g0208 a0000c0014t0003g0191 a0000c0014t0033g0165 a0000c0019t0006g0098 a0000c0019t0006g0127 a0000c0019t0011g0313 a0000c0022t0001g0118 a0000c0022t0001g0124 a0000c0022t0001g0134 a0000c0035t0007g0274 a0000c0035t0048g0312 a0000c0063t0051g0086 a0000c0071t0018g0069 a0000c0080t0045g0073 a0000c0084t0036g0320 a0000c0089t0008g0162 a0005c0052t0006g0093 a0005c0054t0003g0068 a0010c0034t0005g0116 a0010c0034t0006g0100 a0010c0064t0009g0109 a0010c0065t0020g0001 a0011c0016t0002g0091 a0011c0016t0002g0259 a0011c0016t0002g0260 a0011c0016t0003g0303 a0017c0029t0001g0195 a0017c0029t0003g0166 a0021c0076t0015g0286 a0028c0066t0014g0032 a0029c0059t0002g0311 a0032c0040t0001g0213	33	348	0.0948	1	c.261 others(5): Show c.2610dupC	p.Ala others(5): Show p.Ala871fs	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	19/19	3031/4839	2611/3009	871/1002	INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXL8_chr16_67154957_67169174	67161939	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00408.hp1 HG00438.hp1 HG01256.hp2 others(10): Show HG00408.hp1 HG00438.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp1 HG02735.hp2 HG04115.hp1 HG04204.hp2 NA19007.hp2 NA19010.hp1 NA19058.hp2 NA19063.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	13	244	0.0533	0	c.152 others(5): Show c.152+2T>C		FBXL8	ENSG00000135722.9	transcript	ENST00000258200.8	protein_coding	2/2					chr16	TogoVar
FCRL6_chr1_159797360_159821257	159815623	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00280.hp2 HG00639.hp1 others(15): Show HG00099.hp2 HG00280.hp2 HG00639.hp1 HG01109.hp1 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01934.hp2 HG02004.hp1 HG02698.hp1 HG03710.hp1 HG04115.hp1 NA18957.hp2 NA20129.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0003 a0008 a0010 others(1): Show a0003 a0008 a0010 a0013	a0003c0003 a0008c0020 a0010c0010 others(1): Show a0003c0003 a0008c0020 a0010c0010 a0013c0018	a0003c0003t0002 a0008c0020t0002 a0010c0010t0002 others(1): Show a0003c0003t0002 a0008c0020t0002 a0010c0010t0002 a0013c0018t0002	a0003c0003t0002g0013 a0003c0003t0002g0022 a0003c0003t0002g0025 others(5): Show a0003c0003t0002g0013 a0003c0003t0002g0022 a0003c0003t0002g0025 a0003c0003t0002g0039 a0003c0003t0002g0062 a0008c0020t0002g0078 a0010c0010t0002g0039 a0013c0018t0002g0095	18	452	0.0398	0	c.126 others(4): Show c.1267C>T	p.Gln others(4): Show p.Gln423*	FCRL6	ENSG00000181036.14	transcript	ENST00000368106.4	protein_coding	10/10	1332/1966	1267/1305	423/434		chr1	TogoVar
FMNL2_chr2_152330174_152654826	152619552	G G	GCCAC GCCAC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00438.hp2 HG00735.hp1 others(72): Show HG00438.hp1 HG00438.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18977.hp2 NA18995.hp1 NA18995.hp2 NA19060.hp2 NA19062.hp2	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0002 a0002c0004 a0002c0007 others(13): Show a0002c0002 a0002c0004 a0002c0007 a0002c0009 a0002c0012 a0002c0019 a0002c0022 a0002c0033 a0002c0036 a0004c0008 a0004c0021 a0004c0023 a0004c0026 a0004c0031 a0004c0035 a0008c0016	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(32): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0002c0002t0011 a0002c0002t0017 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0005 a0002c0007t0001 a0002c0007t0002 a0002c0007t0003 a0002c0007t0006 a0002c0009t0001 a0002c0009t0002 a0002c0009t0003 a0002c0012t0001 a0002c0012t0007 a0002c0019t0004 a0002c0022t0002 a0002c0033t0002 a0002c0036t0001 a0004c0008t0001 a0004c0008t0002 a0004c0021t0002 a0004c0021t0003 a0004c0023t0002 a0004c0026t0010 a0004c0031t0009 a0004c0035t0002 a0008c0016t0002	a0002c0002t0001g0002 a0002c0002t0001g0022 a0002c0002t0001g0031 others(72): Show a0002c0002t0001g0002 a0002c0002t0001g0022 a0002c0002t0001g0031 a0002c0002t0001g0038 a0002c0002t0001g0051 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0159 a0002c0002t0001g0168 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0181 a0002c0002t0001g0191 a0002c0002t0001g0197 a0002c0002t0002g0037 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0066 a0002c0002t0002g0161 a0002c0002t0002g0166 a0002c0002t0003g0074 a0002c0002t0003g0170 a0002c0002t0005g0071 a0002c0002t0006g0113 a0002c0002t0008g0035 a0002c0002t0010g0085 a0002c0002t0011g0151 a0002c0002t0017g0001 a0002c0004t0001g0042 a0002c0004t0001g0048 a0002c0004t0001g0080 a0002c0004t0001g0083 a0002c0004t0001g0111 a0002c0004t0001g0112 a0002c0004t0001g0124 a0002c0004t0001g0142 a0002c0004t0001g0177 a0002c0004t0002g0125 a0002c0004t0002g0164 a0002c0004t0003g0056 a0002c0004t0003g0059 a0002c0004t0003g0065 a0002c0004t0005g0046 a0002c0007t0001g0041 a0002c0007t0001g0072 a0002c0007t0001g0133 a0002c0007t0001g0172 a0002c0007t0002g0127 a0002c0007t0003g0107 a0002c0007t0006g0134 a0002c0009t0001g0121 a0002c0009t0001g0153 a0002c0009t0002g0018 a0002c0009t0003g0044 a0002c0012t0001g0156 a0002c0012t0001g0163 a0002c0012t0007g0109 a0002c0019t0004g0094 a0002c0019t0004g0140 a0002c0022t0002g0117 a0002c0022t0002g0187 a0002c0033t0002g0154 a0002c0036t0001g0199 a0004c0008t0001g0192 a0004c0008t0002g0078 a0004c0008t0002g0100 a0004c0008t0002g0157 a0004c0021t0002g0193 a0004c0021t0003g0005 a0004c0023t0002g0084 a0004c0026t0010g0086 a0004c0031t0009g0138 a0004c0035t0002g0105 a0008c0016t0002g0030 a0008c0016t0002g0032	75	200	0.3750	4	c.167 others(13): Show c.1673_1674insACCC	p.Pro others(5): Show p.Pro561fs	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	15/26	2104/5630	1674/3279	558/1092	INFO_REALIGN_3_PRIME	chr2	TogoVar
FMO2_chr1_171180300_171217686	171208951	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(346): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0015 a0002c0002 others(14): Show a0001c0001 a0001c0015 a0002c0002 a0002c0019 a0003c0003 a0003c0016 a0004c0005 a0004c0008 a0004c0009 a0005c0004 a0006c0006 a0009c0011 a0010c0012 a0011c0014 a0012c0013 a0014c0021 a0015c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0015t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0019t0004 a0003c0003t0001 a0003c0003t0002 a0003c0003t0014 a0003c0016t0002 a0004c0005t0003 a0004c0008t0002 a0004c0008t0023 a0004c0009t0004 a0005c0004t0003 a0005c0004t0008 a0006c0006t0006 a0006c0006t0011 a0006c0006t0016 a0009c0011t0002 a0010c0012t0002 a0011c0014t0006 a0012c0013t0001 a0014c0021t0002 a0015c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(195): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0139 a0001c0001t0002g0090 a0001c0001t0007g0003 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0019 a0001c0001t0007g0057 a0001c0001t0007g0070 a0001c0001t0010g0006 a0001c0001t0010g0030 a0001c0001t0013g0010 a0001c0001t0013g0050 a0001c0001t0013g0065 a0001c0001t0018g0083 a0001c0001t0019g0087 a0001c0001t0020g0089 a0001c0001t0022g0067 a0001c0015t0003g0051 a0001c0015t0003g0072 a0001c0015t0003g0084 a0002c0002t0004g0004 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0011 a0002c0002t0004g0012 a0002c0002t0004g0024 a0002c0002t0004g0028 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0041 a0002c0002t0004g0042 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0138 a0002c0002t0004g0142 a0002c0002t0004g0143 a0002c0002t0004g0144 a0002c0002t0004g0146 a0002c0002t0004g0149 a0002c0002t0004g0151 a0002c0002t0004g0152 a0002c0002t0004g0173 a0002c0002t0005g0004 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0012 a0002c0002t0005g0124 a0002c0002t0005g0125 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0002t0005g0140 a0002c0002t0005g0150 a0002c0002t0025g0024 a0002c0019t0004g0004 a0003c0003t0001g0180 a0003c0003t0002g0001 a0003c0003t0002g0018 a0003c0003t0002g0029 a0003c0003t0002g0045 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0183 a0003c0003t0002g0185 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0190 a0003c0003t0002g0191 a0003c0003t0002g0192 a0003c0003t0002g0193 a0003c0003t0002g0194 a0003c0003t0002g0195 a0003c0003t0002g0196 a0003c0003t0014g0001 a0003c0003t0014g0045 a0003c0016t0002g0029 a0003c0016t0002g0184 a0004c0005t0003g0005 a0004c0005t0003g0025 a0004c0005t0003g0037 a0004c0005t0003g0040 a0004c0005t0003g0126 a0004c0005t0003g0127 a0004c0005t0003g0132 a0004c0005t0003g0135 a0004c0005t0003g0141 a0004c0005t0003g0145 a0004c0005t0003g0148 a0004c0008t0002g0035 a0004c0008t0002g0107 a0004c0008t0002g0109 a0004c0008t0002g0111 a0004c0008t0002g0147 a0004c0008t0002g0165 a0004c0008t0023g0046 a0004c0009t0004g0016 a0004c0009t0004g0108 a0004c0009t0004g0110 a0004c0009t0004g0174 a0004c0009t0004g0175 a0005c0004t0003g0013 a0005c0004t0003g0017 a0005c0004t0003g0043 a0005c0004t0003g0044 a0005c0004t0003g0153 a0005c0004t0003g0154 a0005c0004t0003g0155 a0005c0004t0003g0156 a0005c0004t0003g0159 a0005c0004t0003g0160 a0005c0004t0003g0161 a0005c0004t0003g0162 a0005c0004t0003g0163 a0005c0004t0003g0164 a0005c0004t0003g0166 a0005c0004t0003g0167 a0005c0004t0003g0169 a0005c0004t0003g0170 a0005c0004t0008g0026 a0005c0004t0008g0027 a0005c0004t0008g0157 a0005c0004t0008g0158 a0005c0004t0008g0168 a0006c0006t0006g0007 a0006c0006t0006g0036 a0006c0006t0006g0112 a0006c0006t0006g0113 a0006c0006t0006g0114 a0006c0006t0006g0115 a0006c0006t0006g0116 a0006c0006t0006g0117 a0006c0006t0006g0118 a0006c0006t0006g0120 a0006c0006t0006g0121 a0006c0006t0006g0122 a0006c0006t0006g0123 a0006c0006t0011g0007 a0006c0006t0011g0119 a0006c0006t0016g0023 a0009c0011t0002g0021 a0009c0011t0002g0106 a0010c0012t0002g0022 a0011c0014t0006g0091 a0011c0014t0006g0095 a0011c0014t0006g0096 a0012c0013t0001g0032 a0012c0013t0001g0064 a0014c0021t0002g0001 a0015c0020t0001g0186	349	366	0.9536	0	c.141 others(4): Show c.1414C>T	p.Gln others(4): Show p.Gln472*	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1480/5215	1414/1608	472/535		chr1	TogoVar
FOLR3_chr11_72130725_72144892	72139110	CTA CTA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(333): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0018 a0001c0019 a0003c0004 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0001c0012t0001 a0001c0018t0001 a0001c0019t0001 a0003c0004t0001 a0005c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0002g0001 a0001c0003t0001g0001 a0001c0003t0001g0009 a0001c0003t0001g0018 a0001c0003t0001g0022 a0001c0005t0001g0004 a0001c0010t0001g0002 a0001c0012t0001g0002 a0001c0018t0001g0001 a0001c0019t0001g0001 a0003c0004t0001g0001 a0005c0014t0001g0001	336	384	0.8750	-2	c.320 others(9): Show c.320_321delAT	p.Tyr others(5): Show p.Tyr107fs	FOLR3	ENSG00000110203.10	transcript	ENST00000611028.3	protein_coding	3/5	370/849	320/738	107/245	INFO_REALIGN_3_PRIME	chr11	TogoVar
FOXD4L3_chr9_68297867_68310084	68303273	A A	T T	stop_gained stop_gained	HIGH	HG00423.hp1 HG00544.hp2 HG00621.hp1 others(81): Show HG00423.hp1 HG00544.hp2 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18952.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18968.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18991.hp2 NA18994.hp1 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19057.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0001c0014 others(2): Show a0001c0002 a0001c0003 a0001c0014 a0001c0015 a0007c0011	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0014t0001 a0001c0015t0001 a0007c0011t0001	a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 others(3): Show a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 a0001c0014t0001g0000 a0001c0015t0001g0000 a0007c0011t0001g0000	84	175	0.4800	0	c.322 others(3): Show c.322A>T	p.Lys others(4): Show p.Lys108*	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding	1/1	407/2218	322/1254	108/417		chr9	TogoVar
FOXD4L3_chr9_68297867_68310084	68303731	C C	A A	stop_gained stop_gained	HIGH	HG00621.hp2 HG01168.hp1 HG01169.hp1 others(7): Show HG00621.hp2 HG01168.hp1 HG01169.hp1 HG01517.hp2 HG02055.hp2 HG02630.hp1 HG03654.hp2 HG03704.hp2 HG04115.hp1 NA19001.hp1	a0004 a0006 a0004 a0006	a0004c0005 a0004c0007 a0006c0016 a0004c0005 a0004c0007 a0006c0016	a0004c0005t0001 a0004c0005t0005 a0004c0007t0001 others(1): Show a0004c0005t0001 a0004c0005t0005 a0004c0007t0001 a0006c0016t0001	a0004c0005t0001g0000 a0004c0005t0005g0000 a0004c0007t0001g0000 others(1): Show a0004c0005t0001g0000 a0004c0005t0005g0000 a0004c0007t0001g0000 a0006c0016t0001g0000	10	175	0.0571	0	c.780 others(3): Show c.780C>A	p.Tyr others(4): Show p.Tyr260*	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding	1/1	865/2218	780/1254	260/417		chr9	TogoVar
FOXD4_chr9_111231_123417	116800	C C	G G	stop_lost stop_lost	HIGH	HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show HG00423.hp1 HG00544.hp1 HG00639.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02273.hp2 HG02293.hp2 HG02572.hp2 HG02738.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20805.hp1	a0000 a0000	a0000c0002 a0000c0006 a0000c0016 others(5): Show a0000c0002 a0000c0006 a0000c0016 a0000c0027 a0000c0038 a0000c0039 a0000c0040 a0000c0043	a0000c0002t0001 a0000c0002t0002 a0000c0002t0009 others(9): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0009 a0000c0002t0011 a0000c0006t0001 a0000c0006t0002 a0000c0016t0002 a0000c0027t0002 a0000c0038t0003 a0000c0039t0015 a0000c0040t0002 a0000c0043t0001	a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0009g0000 others(9): Show a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0009g0000 a0000c0002t0011g0000 a0000c0006t0001g0000 a0000c0006t0002g0000 a0000c0016t0002g0000 a0000c0027t0002g0000 a0000c0038t0003g0000 a0000c0039t0015g0000 a0000c0040t0002g0000 a0000c0043t0001g0000	108	452	0.2389	0	c.132 others(4): Show c.1320G>C	p.Ter others(11): Show p.Ter440Tyrext*?	FOXD4	ENSG00000170122.6	transcript	ENST00000382500.4	protein_coding	1/1	1618/2187	1320/1320	440/439		chr9	TogoVar
FUT2_chr19_48690971_48710951	48703417	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0022 a0002c0002 a0002c0008 a0002c0022	a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 others(13): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0015 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0008t0010 a0002c0022t0003	a0002c0002t0003g0004 a0002c0002t0003g0008 a0002c0002t0003g0017 others(51): Show a0002c0002t0003g0004 a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0030 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0110 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0139 a0002c0002t0005g0004 a0002c0002t0005g0008 a0002c0002t0005g0017 a0002c0002t0005g0022 a0002c0002t0005g0046 a0002c0002t0005g0072 a0002c0002t0005g0101 a0002c0002t0005g0111 a0002c0002t0008g0013 a0002c0002t0008g0019 a0002c0002t0008g0033 a0002c0002t0008g0054 a0002c0002t0011g0013 a0002c0002t0011g0041 a0002c0002t0011g0080 a0002c0002t0011g0086 a0002c0002t0012g0019 a0002c0002t0012g0038 a0002c0002t0012g0059 a0002c0002t0014g0038 a0002c0002t0014g0041 a0002c0002t0014g0102 a0002c0002t0015g0013 a0002c0002t0015g0019 a0002c0002t0015g0033 a0002c0002t0020g0008 a0002c0002t0020g0021 a0002c0002t0021g0004 a0002c0002t0021g0021 a0002c0002t0022g0055 a0002c0002t0022g0056 a0002c0002t0033g0127 a0002c0002t0034g0124 a0002c0002t0035g0058 a0002c0002t0036g0057 a0002c0008t0010g0014 a0002c0022t0003g0099	91	394	0.2310	0	c.461 others(3): Show c.461G>A	p.Trp others(4): Show p.Trp154*	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	2/2	582/3116	461/1032	154/343		chr19	TogoVar
GALR2_chr17_76069781_76082537	76077366	TGTCCTGG others(3): Show TGTCCTGGCCC	T T	frameshift_variant frameshift_variant	HIGH	HG01074.hp2 HG01243.hp1 HG01361.hp2 others(7): Show HG01074.hp2 HG01243.hp1 HG01361.hp2 HG02145.hp2 HG03098.hp1 HG03239.hp2 HG03471.hp2 HG04115.hp2 NA18522.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0001 a0002c0002t0001g0005	10	405	0.0247	-10	c.110 others(19): Show c.1108_1117delCCGTCCTGGC	p.Pro others(5): Show p.Pro370fs	GALR2	ENSG00000182687.4	transcript	ENST00000329003.4	protein_coding	2/2	1211/1373	1108/1164	370/387	INFO_REALIGN_3_PRIME	chr17	TogoVar

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